SNP Links for Protein (Select 1009287590) - SNP

Links from Protein

Items: 1 to 20 of 432

<< First< Prev

Page of 22

Next >Last >>

Select item 14878816071.

rs1487881607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:39761363 (GRCh38)
2:39988503 (GRCh37)
Canonical SPDI:: NC_000002.12:39761362:C:G
Gene:: THUMPD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000032/8 (GnomAD_exomes)
G=0.000038/10 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000002.12:g.39761363C>G, NC_000002.11:g.39988503C>G, NM_025264.5:c.859G>C, NM_025264.4:c.859G>C, XM_017005050.3:c.811G>C, XM_017005050.2:c.811G>C, XM_017005050.1:c.811G>C, XM_011533119.3:c.235G>C, XM_011533119.2:c.235G>C, XM_011533119.1:c.235G>C, NR_135659.1:n.1187G>C, NR_135661.1:n.1177G>C, NR_135660.1:n.1089G>C, NR_135664.1:n.1079G>C, NM_001321478.1:c.157G>C, NM_001321480.1:c.157G>C, NM_001321481.1:c.157G>C, NM_001321477.1:c.157G>C, NR_028102.1:n.896G>C, NR_135662.1:n.886G>C, NM_001321468.1:c.859G>C, NM_001321475.1:c.580G>C, NM_001321469.1:c.580G>C, NM_001321470.1:c.532G>C, NM_001321474.1:c.859G>C, NR_135663.1:n.486G>C, NM_001321479.1:c.157G>C, NP_079540.2:p.Ala287Pro, XP_016860539.1:p.Ala271Pro, XP_011531421.1:p.Ala79Pro, NP_001308407.1:p.Ala53Pro, NP_001308409.1:p.Ala53Pro, NP_001308410.1:p.Ala53Pro, NP_001308406.1:p.Ala53Pro, NP_001308397.1:p.Ala287Pro, NP_001308404.1:p.Ala194Pro, NP_001308398.1:p.Ala194Pro, NP_001308399.1:p.Ala178Pro, NP_001308403.1:p.Ala287Pro, NP_001308408.1:p.Ala53Pro

Select item 14875357612.

rs1487535761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39779155 (GRCh38)
2:40006295 (GRCh37)
Canonical SPDI:: NC_000002.12:39779154:A:G
Gene:: THUMPD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39779155A>G, NC_000002.11:g.40006295A>G, NM_025264.5:c.85T>C, NM_025264.4:c.85T>C, XM_017005050.3:c.85T>C, XM_017005050.2:c.85T>C, XM_017005050.1:c.85T>C, XM_011533119.3:c.85T>C, XM_011533119.2:c.85T>C, XM_011533119.1:c.85T>C, XM_017005053.3:c.85T>C, XM_017005053.2:c.85T>C, XM_017005053.1:c.85T>C, NR_135659.1:n.122T>C, NR_135661.1:n.122T>C, NR_135660.1:n.122T>C, NR_135664.1:n.122T>C, NM_001321478.1:c.-909T>C, NM_001321480.1:c.-899T>C, NM_001321481.1:c.-811T>C, NM_001321477.1:c.-801T>C, NR_028102.1:n.122T>C, NR_135662.1:n.122T>C, NM_001321468.1:c.85T>C, NM_001321475.1:c.-185T>C, NM_001321469.1:c.-185T>C, NM_001321470.1:c.-185T>C, NM_001321474.1:c.85T>C, NR_135663.1:n.122T>C, NM_001321479.1:c.-208T>C, NP_079540.2:p.Phe29Leu, XP_016860539.1:p.Phe29Leu, XP_011531421.1:p.Phe29Leu, XP_016860542.1:p.Phe29Leu, NP_001308397.1:p.Phe29Leu, NP_001308403.1:p.Phe29Leu

Select item 14869082573.

rs1486908257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39768460 (GRCh38)
2:39995600 (GRCh37)
Canonical SPDI:: NC_000002.12:39768459:A:G
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39768460A>G, NC_000002.11:g.39995600A>G, NM_025264.5:c.714T>C, NM_025264.4:c.714T>C, XM_017005050.3:c.666T>C, XM_017005050.2:c.666T>C, XM_017005050.1:c.666T>C, NR_135659.1:n.1042T>C, NR_135661.1:n.1032T>C, NR_135660.1:n.944T>C, NR_135664.1:n.934T>C, NM_001321478.1:c.12T>C, NM_001321480.1:c.12T>C, NM_001321481.1:c.12T>C, NM_001321477.1:c.12T>C, NR_028102.1:n.751T>C, NR_135662.1:n.741T>C, NM_001321468.1:c.714T>C, NM_001321475.1:c.435T>C, NM_001321469.1:c.435T>C, NM_001321470.1:c.387T>C, NM_001321474.1:c.714T>C, NR_135663.1:n.341T>C, NM_001321479.1:c.12T>C

Select item 14852715744.

rs1485271574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39769998 (GRCh38)
2:39997138 (GRCh37)
Canonical SPDI:: NC_000002.12:39769997:T:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39769998T>C, NC_000002.11:g.39997138T>C, NM_025264.5:c.384A>G, NM_025264.4:c.384A>G, XM_017005050.3:c.384A>G, XM_017005050.2:c.384A>G, XM_017005050.1:c.384A>G, XM_017005053.3:c.384A>G, XM_017005053.2:c.384A>G, XM_017005053.1:c.384A>G, NR_135659.1:n.421A>G, NR_135661.1:n.411A>G, NR_135660.1:n.421A>G, NR_135664.1:n.411A>G, NM_001321478.1:c.-610A>G, NM_001321480.1:c.-610A>G, NM_001321481.1:c.-512A>G, NM_001321477.1:c.-512A>G, NR_028102.1:n.421A>G, NR_135662.1:n.411A>G, NM_001321468.1:c.384A>G, NM_001321475.1:c.105A>G, NM_001321469.1:c.105A>G, NM_001321470.1:c.105A>G, NM_001321474.1:c.384A>G

Select item 14770827765.

rs1477082776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:39771607 (GRCh38)
2:39998747 (GRCh37)
Canonical SPDI:: NC_000002.12:39771606:T:A,NC_000002.12:39771606:T:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.39771607T>A, NC_000002.12:g.39771607T>C, NC_000002.11:g.39998747T>A, NC_000002.11:g.39998747T>C, NM_025264.5:c.160A>T, NM_025264.5:c.160A>G, NM_025264.4:c.160A>T, NM_025264.4:c.160A>G, XM_017005050.3:c.160A>T, XM_017005050.3:c.160A>G, XM_017005050.2:c.160A>T, XM_017005050.2:c.160A>G, XM_017005050.1:c.160A>T, XM_017005050.1:c.160A>G, XM_017005053.3:c.160A>T, XM_017005053.3:c.160A>G, XM_017005053.2:c.160A>T, XM_017005053.2:c.160A>G, XM_017005053.1:c.160A>T, XM_017005053.1:c.160A>G, NR_135659.1:n.197A>T, NR_135659.1:n.197A>G, NR_135661.1:n.197A>T, NR_135661.1:n.197A>G, NR_135660.1:n.197A>T, NR_135660.1:n.197A>G, NR_135664.1:n.197A>T, NR_135664.1:n.197A>G, NM_001321478.1:c.-834A>T, NM_001321478.1:c.-834A>G, NM_001321480.1:c.-824A>T, NM_001321480.1:c.-824A>G, NM_001321481.1:c.-736A>T, NM_001321481.1:c.-736A>G, NM_001321477.1:c.-726A>T, NM_001321477.1:c.-726A>G, NR_028102.1:n.197A>T, NR_028102.1:n.197A>G, NR_135662.1:n.197A>T, NR_135662.1:n.197A>G, NM_001321468.1:c.160A>T, NM_001321468.1:c.160A>G, NM_001321475.1:c.-110A>T, NM_001321475.1:c.-110A>G, NM_001321469.1:c.-110A>T, NM_001321469.1:c.-110A>G, NM_001321470.1:c.-110A>T, NM_001321470.1:c.-110A>G, NM_001321474.1:c.160A>T, NM_001321474.1:c.160A>G, NR_135663.1:n.197A>T, NR_135663.1:n.197A>G, NM_001321479.1:c.-133A>T, NM_001321479.1:c.-133A>G, NP_079540.2:p.Thr54Ser, NP_079540.2:p.Thr54Ala, XP_016860539.1:p.Thr54Ser, XP_016860539.1:p.Thr54Ala, XP_016860542.1:p.Thr54Ser, XP_016860542.1:p.Thr54Ala, NP_001308397.1:p.Thr54Ser, NP_001308397.1:p.Thr54Ala, NP_001308403.1:p.Thr54Ser, NP_001308403.1:p.Thr54Ala

Select item 14731611246.

rs1473161124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39769711 (GRCh38)
2:39996851 (GRCh37)
Canonical SPDI:: NC_000002.12:39769710:T:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39769711T>C, NC_000002.11:g.39996851T>C, NM_025264.5:c.671A>G, NM_025264.4:c.671A>G, XM_017005053.3:c.671A>G, XM_017005053.2:c.671A>G, XM_017005053.1:c.671A>G, NR_135659.1:n.708A>G, NR_135661.1:n.698A>G, NR_135660.1:n.708A>G, NR_135664.1:n.698A>G, NM_001321478.1:c.-323A>G, NM_001321480.1:c.-323A>G, NM_001321481.1:c.-225A>G, NM_001321477.1:c.-225A>G, NR_028102.1:n.708A>G, NR_135662.1:n.698A>G, NM_001321468.1:c.671A>G, NM_001321475.1:c.392A>G, NM_001321469.1:c.392A>G, NM_001321474.1:c.671A>G, NP_079540.2:p.Gln224Arg, XP_016860542.1:p.Gln224Arg, NP_001308397.1:p.Gln224Arg, NP_001308404.1:p.Gln131Arg, NP_001308398.1:p.Gln131Arg, NP_001308403.1:p.Gln224Arg

Select item 14676626077.

rs1467662607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39770077 (GRCh38)
2:39997217 (GRCh37)
Canonical SPDI:: NC_000002.12:39770076:G:A
Gene:: THUMPD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39770077G>A, NC_000002.11:g.39997217G>A, NM_025264.5:c.305C>T, NM_025264.4:c.305C>T, XM_017005050.3:c.305C>T, XM_017005050.2:c.305C>T, XM_017005050.1:c.305C>T, XM_017005053.3:c.305C>T, XM_017005053.2:c.305C>T, XM_017005053.1:c.305C>T, NR_135659.1:n.342C>T, NR_135661.1:n.332C>T, NR_135660.1:n.342C>T, NR_135664.1:n.332C>T, NM_001321478.1:c.-689C>T, NM_001321480.1:c.-689C>T, NM_001321481.1:c.-591C>T, NM_001321477.1:c.-591C>T, NR_028102.1:n.342C>T, NR_135662.1:n.332C>T, NM_001321468.1:c.305C>T, NM_001321475.1:c.26C>T, NM_001321469.1:c.26C>T, NM_001321470.1:c.26C>T, NM_001321474.1:c.305C>T, NP_079540.2:p.Pro102Leu, XP_016860539.1:p.Pro102Leu, XP_016860542.1:p.Pro102Leu, NP_001308397.1:p.Pro102Leu, NP_001308404.1:p.Pro9Leu, NP_001308398.1:p.Pro9Leu, NP_001308399.1:p.Pro9Leu, NP_001308403.1:p.Pro102Leu

Select item 14672520568.

rs1467252056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39769807 (GRCh38)
2:39996947 (GRCh37)
Canonical SPDI:: NC_000002.12:39769806:T:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39769807T>C, NC_000002.11:g.39996947T>C, NM_025264.5:c.575A>G, NM_025264.4:c.575A>G, XM_017005050.3:c.575A>G, XM_017005050.2:c.575A>G, XM_017005050.1:c.575A>G, XM_017005053.3:c.575A>G, XM_017005053.2:c.575A>G, XM_017005053.1:c.575A>G, NR_135659.1:n.612A>G, NR_135661.1:n.602A>G, NR_135660.1:n.612A>G, NR_135664.1:n.602A>G, NM_001321478.1:c.-419A>G, NM_001321480.1:c.-419A>G, NM_001321481.1:c.-321A>G, NM_001321477.1:c.-321A>G, NR_028102.1:n.612A>G, NR_135662.1:n.602A>G, NM_001321468.1:c.575A>G, NM_001321475.1:c.296A>G, NM_001321469.1:c.296A>G, NM_001321470.1:c.296A>G, NM_001321474.1:c.575A>G, NP_079540.2:p.Asp192Gly, XP_016860539.1:p.Asp192Gly, XP_016860542.1:p.Asp192Gly, NP_001308397.1:p.Asp192Gly, NP_001308404.1:p.Asp99Gly, NP_001308398.1:p.Asp99Gly, NP_001308399.1:p.Asp99Gly, NP_001308403.1:p.Asp192Gly

Select item 14625622219.

rs1462562221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39769785 (GRCh38)
2:39996925 (GRCh37)
Canonical SPDI:: NC_000002.12:39769784:A:G
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39769785A>G, NC_000002.11:g.39996925A>G, NM_025264.5:c.597T>C, NM_025264.4:c.597T>C, XM_017005050.3:c.597T>C, XM_017005050.2:c.597T>C, XM_017005050.1:c.597T>C, XM_017005053.3:c.597T>C, XM_017005053.2:c.597T>C, XM_017005053.1:c.597T>C, NR_135659.1:n.634T>C, NR_135661.1:n.624T>C, NR_135660.1:n.634T>C, NR_135664.1:n.624T>C, NM_001321478.1:c.-397T>C, NM_001321480.1:c.-397T>C, NM_001321481.1:c.-299T>C, NM_001321477.1:c.-299T>C, NR_028102.1:n.634T>C, NR_135662.1:n.624T>C, NM_001321468.1:c.597T>C, NM_001321475.1:c.318T>C, NM_001321469.1:c.318T>C, NM_001321470.1:c.318T>C, NM_001321474.1:c.597T>C

Select item 145978560110.

rs1459785601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39755297 (GRCh38)
2:39982437 (GRCh37)
Canonical SPDI:: NC_000002.12:39755296:A:G
Gene:: THUMPD2 (Varview), LOC124905994 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000049/2 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39755297A>G, NC_000002.11:g.39982437A>G, NM_025264.5:c.1076T>C, NM_025264.4:c.1076T>C, XM_017005050.3:c.1028T>C, XM_017005050.2:c.1028T>C, XM_017005050.1:c.1028T>C, XM_011533119.3:c.452T>C, XM_011533119.2:c.452T>C, XM_011533119.1:c.452T>C, XR_007086294.1:n.3194A>G, NR_135659.1:n.1525T>C, NR_135661.1:n.1515T>C, NR_135660.1:n.1427T>C, NR_135664.1:n.1417T>C, NM_001321478.1:c.374T>C, NM_001321480.1:c.374T>C, NM_001321481.1:c.374T>C, NM_001321477.1:c.374T>C, NR_028102.1:n.1234T>C, NR_135662.1:n.1224T>C, NM_001321468.1:c.1076T>C, NM_001321475.1:c.797T>C, NM_001321469.1:c.797T>C, NM_001321470.1:c.749T>C, NR_135663.1:n.824T>C, NM_001321479.1:c.374T>C, NP_079540.2:p.Ile359Thr, XP_016860539.1:p.Ile343Thr, XP_011531421.1:p.Ile151Thr, NP_001308407.1:p.Ile125Thr, NP_001308409.1:p.Ile125Thr, NP_001308410.1:p.Ile125Thr, NP_001308406.1:p.Ile125Thr, NP_001308397.1:p.Ile359Thr, NP_001308404.1:p.Ile266Thr, NP_001308398.1:p.Ile266Thr, NP_001308399.1:p.Ile250Thr, NP_001308408.1:p.Ile125Thr

Select item 145894898211.

rs1458948982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:39779170 (GRCh38)
2:40006310 (GRCh37)
Canonical SPDI:: NC_000002.12:39779169:G:A,NC_000002.12:39779169:G:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39779170G>A, NC_000002.12:g.39779170G>C, NC_000002.11:g.40006310G>A, NC_000002.11:g.40006310G>C, NM_025264.5:c.70C>T, NM_025264.5:c.70C>G, NM_025264.4:c.70C>T, NM_025264.4:c.70C>G, XM_017005050.3:c.70C>T, XM_017005050.3:c.70C>G, XM_017005050.2:c.70C>T, XM_017005050.2:c.70C>G, XM_017005050.1:c.70C>T, XM_017005050.1:c.70C>G, XM_011533119.3:c.70C>T, XM_011533119.3:c.70C>G, XM_011533119.2:c.70C>T, XM_011533119.2:c.70C>G, XM_011533119.1:c.70C>T, XM_011533119.1:c.70C>G, XM_017005053.3:c.70C>T, XM_017005053.3:c.70C>G, XM_017005053.2:c.70C>T, XM_017005053.2:c.70C>G, XM_017005053.1:c.70C>T, XM_017005053.1:c.70C>G, NR_135659.1:n.107C>T, NR_135659.1:n.107C>G, NR_135661.1:n.107C>T, NR_135661.1:n.107C>G, NR_135660.1:n.107C>T, NR_135660.1:n.107C>G, NR_135664.1:n.107C>T, NR_135664.1:n.107C>G, NM_001321478.1:c.-924C>T, NM_001321478.1:c.-924C>G, NM_001321480.1:c.-914C>T, NM_001321480.1:c.-914C>G, NM_001321481.1:c.-826C>T, NM_001321481.1:c.-826C>G, NM_001321477.1:c.-816C>T, NM_001321477.1:c.-816C>G, NR_028102.1:n.107C>T, NR_028102.1:n.107C>G, NR_135662.1:n.107C>T, NR_135662.1:n.107C>G, NM_001321468.1:c.70C>T, NM_001321468.1:c.70C>G, NM_001321475.1:c.-200C>T, NM_001321475.1:c.-200C>G, NM_001321469.1:c.-200C>T, NM_001321469.1:c.-200C>G, NM_001321470.1:c.-200C>T, NM_001321470.1:c.-200C>G, NM_001321474.1:c.70C>T, NM_001321474.1:c.70C>G, NR_135663.1:n.107C>T, NR_135663.1:n.107C>G, NM_001321479.1:c.-223C>T, NM_001321479.1:c.-223C>G, NP_079540.2:p.Arg24Cys, NP_079540.2:p.Arg24Gly, XP_016860539.1:p.Arg24Cys, XP_016860539.1:p.Arg24Gly, XP_011531421.1:p.Arg24Cys, XP_011531421.1:p.Arg24Gly, XP_016860542.1:p.Arg24Cys, XP_016860542.1:p.Arg24Gly, NP_001308397.1:p.Arg24Cys, NP_001308397.1:p.Arg24Gly, NP_001308403.1:p.Arg24Cys, NP_001308403.1:p.Arg24Gly

Select item 145436134912.

rs1454361349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39755900 (GRCh38)
2:39983040 (GRCh37)
Canonical SPDI:: NC_000002.12:39755899:T:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39755900T>C, NC_000002.11:g.39983040T>C, NM_025264.5:c.952A>G, NM_025264.4:c.952A>G, XM_017005050.3:c.904A>G, XM_017005050.2:c.904A>G, XM_017005050.1:c.904A>G, XM_011533119.3:c.328A>G, XM_011533119.2:c.328A>G, XM_011533119.1:c.328A>G, NR_135659.1:n.1401A>G, NR_135661.1:n.1391A>G, NR_135660.1:n.1303A>G, NR_135664.1:n.1293A>G, NM_001321478.1:c.250A>G, NM_001321480.1:c.250A>G, NM_001321481.1:c.250A>G, NM_001321477.1:c.250A>G, NR_028102.1:n.1110A>G, NR_135662.1:n.1100A>G, NM_001321468.1:c.952A>G, NM_001321475.1:c.673A>G, NM_001321469.1:c.673A>G, NM_001321470.1:c.625A>G, NM_001321474.1:c.952A>G, NR_135663.1:n.700A>G, NM_001321479.1:c.250A>G, NP_079540.2:p.Lys318Glu, XP_016860539.1:p.Lys302Glu, XP_011531421.1:p.Lys110Glu, NP_001308407.1:p.Lys84Glu, NP_001308409.1:p.Lys84Glu, NP_001308410.1:p.Lys84Glu, NP_001308406.1:p.Lys84Glu, NP_001308397.1:p.Lys318Glu, NP_001308404.1:p.Lys225Glu, NP_001308398.1:p.Lys225Glu, NP_001308399.1:p.Lys209Glu, NP_001308403.1:p.Lys318Glu, NP_001308408.1:p.Lys84Glu

Select item 145313797313.

rs1453137973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:39769896 (GRCh38)
2:39997036 (GRCh37)
Canonical SPDI:: NC_000002.12:39769895:C:G,NC_000002.12:39769895:C:T
Gene:: THUMPD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.39769896C>G, NC_000002.12:g.39769896C>T, NC_000002.11:g.39997036C>G, NC_000002.11:g.39997036C>T, NM_025264.5:c.486G>C, NM_025264.5:c.486G>A, NM_025264.4:c.486G>C, NM_025264.4:c.486G>A, XM_017005050.3:c.486G>C, XM_017005050.3:c.486G>A, XM_017005050.2:c.486G>C, XM_017005050.2:c.486G>A, XM_017005050.1:c.486G>C, XM_017005050.1:c.486G>A, XM_017005053.3:c.486G>C, XM_017005053.3:c.486G>A, XM_017005053.2:c.486G>C, XM_017005053.2:c.486G>A, XM_017005053.1:c.486G>C, XM_017005053.1:c.486G>A, NR_135659.1:n.523G>C, NR_135659.1:n.523G>A, NR_135661.1:n.513G>C, NR_135661.1:n.513G>A, NR_135660.1:n.523G>C, NR_135660.1:n.523G>A, NR_135664.1:n.513G>C, NR_135664.1:n.513G>A, NM_001321478.1:c.-508G>C, NM_001321478.1:c.-508G>A, NM_001321480.1:c.-508G>C, NM_001321480.1:c.-508G>A, NM_001321481.1:c.-410G>C, NM_001321481.1:c.-410G>A, NM_001321477.1:c.-410G>C, NM_001321477.1:c.-410G>A, NR_028102.1:n.523G>C, NR_028102.1:n.523G>A, NR_135662.1:n.513G>C, NR_135662.1:n.513G>A, NM_001321468.1:c.486G>C, NM_001321468.1:c.486G>A, NM_001321475.1:c.207G>C, NM_001321475.1:c.207G>A, NM_001321469.1:c.207G>C, NM_001321469.1:c.207G>A, NM_001321470.1:c.207G>C, NM_001321470.1:c.207G>A, NM_001321474.1:c.486G>C, NM_001321474.1:c.486G>A, NP_079540.2:p.Gln162His, XP_016860539.1:p.Gln162His, XP_016860542.1:p.Gln162His, NP_001308397.1:p.Gln162His, NP_001308404.1:p.Gln69His, NP_001308398.1:p.Gln69His, NP_001308399.1:p.Gln69His, NP_001308403.1:p.Gln162His

Select item 145197984714.

rs1451979847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 2:39770038 (GRCh38)
2:39997178 (GRCh37)
Canonical SPDI:: NC_000002.12:39770033:AAGAAGA:AAGA
Gene:: THUMPD2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AAGA=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.39770035AGA[1], NC_000002.11:g.39997175AGA[1], NM_025264.5:c.343CTT[1], NM_025264.4:c.343CTT[1], XM_017005050.3:c.343CTT[1], XM_017005050.2:c.343CTT[1], XM_017005050.1:c.343CTT[1], XM_017005053.3:c.343CTT[1], XM_017005053.2:c.343CTT[1], XM_017005053.1:c.343CTT[1], NR_135659.1:n.380CTT[1], NR_135661.1:n.370CTT[1], NR_135660.1:n.380CTT[1], NR_135664.1:n.370CTT[1], NM_001321478.1:c.-651CTT[1], NM_001321480.1:c.-651CTT[1], NM_001321481.1:c.-553CTT[1], NM_001321477.1:c.-553CTT[1], NR_028102.1:n.380CTT[1], NR_135662.1:n.370CTT[1], NM_001321468.1:c.343CTT[1], NM_001321475.1:c.64CTT[1], NM_001321469.1:c.64CTT[1], NM_001321470.1:c.64CTT[1], NM_001321474.1:c.343CTT[1], NP_079540.2:p.Leu116del, XP_016860539.1:p.Leu116del, XP_016860542.1:p.Leu116del, NP_001308397.1:p.Leu116del, NP_001308404.1:p.Leu23del, NP_001308398.1:p.Leu23del, NP_001308399.1:p.Leu23del, NP_001308403.1:p.Leu116del

Select item 145178370915.

rs1451783709 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:39755306 (GRCh38)
2:39982446 (GRCh37)
Canonical SPDI:: NC_000002.12:39755305:A:
Gene:: THUMPD2 (Varview), LOC124905994 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39755306del, NC_000002.11:g.39982446del, NM_025264.5:c.1067del, NM_025264.4:c.1067del, XM_017005050.3:c.1019del, XM_017005050.2:c.1019del, XM_017005050.1:c.1019del, XM_011533119.3:c.443del, XM_011533119.2:c.443del, XM_011533119.1:c.443del, XR_007086294.1:n.3203del, NR_135659.1:n.1516del, NR_135661.1:n.1506del, NR_135660.1:n.1418del, NR_135664.1:n.1408del, NM_001321478.1:c.365del, NM_001321480.1:c.365del, NM_001321481.1:c.365del, NM_001321477.1:c.365del, NR_028102.1:n.1225del, NR_135662.1:n.1215del, NM_001321468.1:c.1067del, NM_001321475.1:c.788del, NM_001321469.1:c.788del, NM_001321470.1:c.740del, NR_135663.1:n.815del, NM_001321479.1:c.365del, NP_079540.2:p.Ile356fs, XP_016860539.1:p.Ile340fs, XP_011531421.1:p.Ile148fs, NP_001308407.1:p.Ile122fs, NP_001308409.1:p.Ile122fs, NP_001308410.1:p.Ile122fs, NP_001308406.1:p.Ile122fs, NP_001308397.1:p.Ile356fs, NP_001308404.1:p.Ile263fs, NP_001308398.1:p.Ile263fs, NP_001308399.1:p.Ile247fs, NP_001308408.1:p.Ile122fs

Select item 145149415116.

rs1451494151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39769898 (GRCh38)
2:39997038 (GRCh37)
Canonical SPDI:: NC_000002.12:39769897:G:A
Gene:: THUMPD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39769898G>A, NC_000002.11:g.39997038G>A, NM_025264.5:c.484C>T, NM_025264.4:c.484C>T, XM_017005050.3:c.484C>T, XM_017005050.2:c.484C>T, XM_017005050.1:c.484C>T, XM_017005053.3:c.484C>T, XM_017005053.2:c.484C>T, XM_017005053.1:c.484C>T, NR_135659.1:n.521C>T, NR_135661.1:n.511C>T, NR_135660.1:n.521C>T, NR_135664.1:n.511C>T, NM_001321478.1:c.-510C>T, NM_001321480.1:c.-510C>T, NM_001321481.1:c.-412C>T, NM_001321477.1:c.-412C>T, NR_028102.1:n.521C>T, NR_135662.1:n.511C>T, NM_001321468.1:c.484C>T, NM_001321475.1:c.205C>T, NM_001321469.1:c.205C>T, NM_001321470.1:c.205C>T, NM_001321474.1:c.484C>T, NP_079540.2:p.Gln162Ter, XP_016860539.1:p.Gln162Ter, XP_016860542.1:p.Gln162Ter, NP_001308397.1:p.Gln162Ter, NP_001308404.1:p.Gln69Ter, NP_001308398.1:p.Gln69Ter, NP_001308399.1:p.Gln69Ter, NP_001308403.1:p.Gln162Ter

Select item 144326789217.

rs1443267892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39771624 (GRCh38)
2:39998764 (GRCh37)
Canonical SPDI:: NC_000002.12:39771623:C:T
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39771624C>T, NC_000002.11:g.39998764C>T, NM_025264.5:c.143G>A, NM_025264.4:c.143G>A, XM_017005050.3:c.143G>A, XM_017005050.2:c.143G>A, XM_017005050.1:c.143G>A, XM_017005053.3:c.143G>A, XM_017005053.2:c.143G>A, XM_017005053.1:c.143G>A, NR_135659.1:n.180G>A, NR_135661.1:n.180G>A, NR_135660.1:n.180G>A, NR_135664.1:n.180G>A, NM_001321478.1:c.-851G>A, NM_001321480.1:c.-841G>A, NM_001321481.1:c.-753G>A, NM_001321477.1:c.-743G>A, NR_028102.1:n.180G>A, NR_135662.1:n.180G>A, NM_001321468.1:c.143G>A, NM_001321475.1:c.-127G>A, NM_001321469.1:c.-127G>A, NM_001321470.1:c.-127G>A, NM_001321474.1:c.143G>A, NR_135663.1:n.180G>A, NM_001321479.1:c.-150G>A, NP_079540.2:p.Gly48Glu, XP_016860539.1:p.Gly48Glu, XP_016860542.1:p.Gly48Glu, NP_001308397.1:p.Gly48Glu, NP_001308403.1:p.Gly48Glu

Select item 143678152718.

rs1436781527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:39769869 (GRCh38)
2:39997009 (GRCh37)
Canonical SPDI:: NC_000002.12:39769868:A:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39769869A>C, NC_000002.11:g.39997009A>C, NM_025264.5:c.513T>G, NM_025264.4:c.513T>G, XM_017005050.3:c.513T>G, XM_017005050.2:c.513T>G, XM_017005050.1:c.513T>G, XM_017005053.3:c.513T>G, XM_017005053.2:c.513T>G, XM_017005053.1:c.513T>G, NR_135659.1:n.550T>G, NR_135661.1:n.540T>G, NR_135660.1:n.550T>G, NR_135664.1:n.540T>G, NM_001321478.1:c.-481T>G, NM_001321480.1:c.-481T>G, NM_001321481.1:c.-383T>G, NM_001321477.1:c.-383T>G, NR_028102.1:n.550T>G, NR_135662.1:n.540T>G, NM_001321468.1:c.513T>G, NM_001321475.1:c.234T>G, NM_001321469.1:c.234T>G, NM_001321470.1:c.234T>G, NM_001321474.1:c.513T>G

Select item 143455258219.

rs1434552582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:39771594 (GRCh38)
2:39998734 (GRCh37)
Canonical SPDI:: NC_000002.12:39771593:A:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39771594A>C, NC_000002.11:g.39998734A>C, NM_025264.5:c.173T>G, NM_025264.4:c.173T>G, XM_017005050.3:c.173T>G, XM_017005050.2:c.173T>G, XM_017005050.1:c.173T>G, XM_017005053.3:c.173T>G, XM_017005053.2:c.173T>G, XM_017005053.1:c.173T>G, NR_135659.1:n.210T>G, NR_135661.1:n.210T>G, NR_135660.1:n.210T>G, NR_135664.1:n.210T>G, NM_001321478.1:c.-821T>G, NM_001321480.1:c.-811T>G, NM_001321481.1:c.-723T>G, NM_001321477.1:c.-713T>G, NR_028102.1:n.210T>G, NR_135662.1:n.210T>G, NM_001321468.1:c.173T>G, NM_001321475.1:c.-97T>G, NM_001321469.1:c.-97T>G, NM_001321470.1:c.-97T>G, NM_001321474.1:c.173T>G, NR_135663.1:n.210T>G, NM_001321479.1:c.-120T>G, NP_079540.2:p.Leu58Trp, XP_016860539.1:p.Leu58Trp, XP_016860542.1:p.Leu58Trp, NP_001308397.1:p.Leu58Trp, NP_001308403.1:p.Leu58Trp

Select item 143451574420.

rs1434515744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:39761403 (GRCh38)
2:39988543 (GRCh37)
Canonical SPDI:: NC_000002.12:39761402:G:A,NC_000002.12:39761402:G:C
Gene:: THUMPD2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39761403G>A, NC_000002.12:g.39761403G>C, NC_000002.11:g.39988543G>A, NC_000002.11:g.39988543G>C, NM_025264.5:c.819C>T, NM_025264.5:c.819C>G, NM_025264.4:c.819C>T, NM_025264.4:c.819C>G, XM_017005050.3:c.771C>T, XM_017005050.3:c.771C>G, XM_017005050.2:c.771C>T, XM_017005050.2:c.771C>G, XM_017005050.1:c.771C>T, XM_017005050.1:c.771C>G, XM_011533119.3:c.195C>T, XM_011533119.3:c.195C>G, XM_011533119.2:c.195C>T, XM_011533119.2:c.195C>G, XM_011533119.1:c.195C>T, XM_011533119.1:c.195C>G, NR_135659.1:n.1147C>T, NR_135659.1:n.1147C>G, NR_135661.1:n.1137C>T, NR_135661.1:n.1137C>G, NR_135660.1:n.1049C>T, NR_135660.1:n.1049C>G, NR_135664.1:n.1039C>T, NR_135664.1:n.1039C>G, NM_001321478.1:c.117C>T, NM_001321478.1:c.117C>G, NM_001321480.1:c.117C>T, NM_001321480.1:c.117C>G, NM_001321481.1:c.117C>T, NM_001321481.1:c.117C>G, NM_001321477.1:c.117C>T, NM_001321477.1:c.117C>G, NR_028102.1:n.856C>T, NR_028102.1:n.856C>G, NR_135662.1:n.846C>T, NR_135662.1:n.846C>G, NM_001321468.1:c.819C>T, NM_001321468.1:c.819C>G, NM_001321475.1:c.540C>T, NM_001321475.1:c.540C>G, NM_001321469.1:c.540C>T, NM_001321469.1:c.540C>G, NM_001321470.1:c.492C>T, NM_001321470.1:c.492C>G, NM_001321474.1:c.819C>T, NM_001321474.1:c.819C>G, NR_135663.1:n.446C>T, NR_135663.1:n.446C>G, NM_001321479.1:c.117C>T, NM_001321479.1:c.117C>G, NP_079540.2:p.Ser273Arg, XP_016860539.1:p.Ser257Arg, XP_011531421.1:p.Ser65Arg, NP_001308407.1:p.Ser39Arg, NP_001308409.1:p.Ser39Arg, NP_001308410.1:p.Ser39Arg, NP_001308406.1:p.Ser39Arg, NP_001308397.1:p.Ser273Arg, NP_001308404.1:p.Ser180Arg, NP_001308398.1:p.Ser180Arg, NP_001308399.1:p.Ser164Arg, NP_001308403.1:p.Ser273Arg, NP_001308408.1:p.Ser39Arg

<< First< Prev

Page of 22

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 432

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity