SNP Links for Protein (Select 6041665) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136687181 (GRCh38)
9:139581633 (GRCh37)
Canonical SPDI:: NC_000009.12:136687180:G:A
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136687181G>A, NC_000009.11:g.139581633G>A, NG_008090.1:g.5279C>T, NM_006412.4:c.177C>T, NM_006412.3:c.177C>T, NM_001012727.2:c.177C>T, NM_001012727.1:c.177C>T

Select item 14742967666.

rs1474296766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136677495 (GRCh38)
9:139571947 (GRCh37)
Canonical SPDI:: NC_000009.12:136677494:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136677495C>T, NC_000009.11:g.139571947C>T, NG_008090.1:g.14965G>A, NM_006412.4:c.244G>A, NM_006412.3:c.244G>A, NM_001012727.2:c.244G>A, NM_001012727.1:c.244G>A, XM_047422636.1:c.-66G>A, NP_006403.2:p.Asp82Asn, NP_001012745.1:p.Asp82Asn

Select item 14690550797.

rs1469055079 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCC>- [Show Flanks]
Chromosome:: 9:136677494 (GRCh38)
9:139571946 (GRCh37)
Canonical SPDI:: NC_000009.12:136677493:TCCC:
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136677494_136677497del, NC_000009.11:g.139571946_139571949del, NG_008090.1:g.14963_14966del, NM_006412.4:c.242_245del, NM_006412.3:c.242_245del, NM_001012727.2:c.242_245del, NM_001012727.1:c.242_245del, XM_047422636.1:c.-68_-65del, NP_006403.2:p.Arg81fs, NP_001012745.1:p.Arg81fs

Select item 14689228218.

rs1468922821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136677526 (GRCh38)
9:139571978 (GRCh37)
Canonical SPDI:: NC_000009.12:136677525:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136677526C>T, NC_000009.11:g.139571978C>T, NG_008090.1:g.14934G>A, NM_006412.4:c.213G>A, NM_006412.3:c.213G>A, NM_001012727.2:c.213G>A, NM_001012727.1:c.213G>A, XM_047422636.1:c.-97G>A

Select item 14632013409.

rs1463201340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136677121 (GRCh38)
9:139571573 (GRCh37)
Canonical SPDI:: NC_000009.12:136677120:A:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136677121A>G, NC_000009.11:g.139571573A>G, NG_008090.1:g.15339T>C, NM_006412.4:c.332T>C, NM_006412.3:c.332T>C, NM_001012727.2:c.332T>C, NM_001012727.1:c.332T>C, XM_047422636.1:c.23T>C, NP_006403.2:p.Leu111Pro, NP_001012745.1:p.Leu111Pro, XP_047278592.1:p.Leu8Pro

Select item 146098036710.

rs1460980367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136687258 (GRCh38)
9:139581710 (GRCh37)
Canonical SPDI:: NC_000009.12:136687257:A:C
Gene:: AGPAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136687258A>C, NC_000009.11:g.139581710A>C, NG_008090.1:g.5202T>G, NM_006412.4:c.100T>G, NM_006412.3:c.100T>G, NM_001012727.2:c.100T>G, NM_001012727.1:c.100T>G, NP_006403.2:p.Cys34Gly, NP_001012745.1:p.Cys34Gly

Select item 145910895911.

rs1459108959 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 9:136673879 (GRCh38)
9:139568331 (GRCh37)
Canonical SPDI:: NC_000009.12:136673878:G:
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136673879del, NC_000009.11:g.139568331del, NG_008090.1:g.18581del, NM_006412.4:c.710del, NM_006412.3:c.710del, NM_001012727.2:c.614del, NM_001012727.1:c.614del, XM_047422636.1:c.401del, NP_006403.2:p.Thr237fs, NP_001012745.1:p.Thr205fs, XP_047278592.1:p.Thr134fs

Select item 145570391712.

rs1455703917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136677130 (GRCh38)
9:139571582 (GRCh37)
Canonical SPDI:: NC_000009.12:136677129:A:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136677130A>G, NC_000009.11:g.139571582A>G, NG_008090.1:g.15330T>C, NM_006412.4:c.323T>C, NM_006412.3:c.323T>C, NM_001012727.2:c.323T>C, NM_001012727.1:c.323T>C, XM_047422636.1:c.14T>C, NP_006403.2:p.Met108Thr, NP_001012745.1:p.Met108Thr, XP_047278592.1:p.Met5Thr

Select item 145238859213.

rs1452388592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:136673765 (GRCh38)
9:139568217 (GRCh37)
Canonical SPDI:: NC_000009.12:136673764:T:C,NC_000009.12:136673764:T:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136673765T>C, NC_000009.12:g.136673765T>G, NC_000009.11:g.139568217T>C, NC_000009.11:g.139568217T>G, NG_008090.1:g.18695A>G, NG_008090.1:g.18695A>C, NM_006412.4:c.824A>G, NM_006412.4:c.824A>C, NM_006412.3:c.824A>G, NM_006412.3:c.824A>C, NM_001012727.2:c.728A>G, NM_001012727.2:c.728A>C, NM_001012727.1:c.728A>G, NM_001012727.1:c.728A>C, XM_047422636.1:c.515A>G, XM_047422636.1:c.515A>C, NP_006403.2:p.Gln275Arg, NP_006403.2:p.Gln275Pro, NP_001012745.1:p.Gln243Arg, NP_001012745.1:p.Gln243Pro, XP_047278592.1:p.Gln172Arg, XP_047278592.1:p.Gln172Pro

Select item 144991677614.

rs1449916776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:136677520 (GRCh38)
9:139571972 (GRCh37)
Canonical SPDI:: NC_000009.12:136677519:A:C,NC_000009.12:136677519:A:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00018/3 (TOMMO)
G=0.00034/1 (KOREAN)
HGVS:: NC_000009.12:g.136677520A>C, NC_000009.12:g.136677520A>G, NC_000009.11:g.139571972A>C, NC_000009.11:g.139571972A>G, NG_008090.1:g.14940T>G, NG_008090.1:g.14940T>C, NM_006412.4:c.219T>G, NM_006412.4:c.219T>C, NM_006412.3:c.219T>G, NM_006412.3:c.219T>C, NM_001012727.2:c.219T>G, NM_001012727.2:c.219T>C, NM_001012727.1:c.219T>G, NM_001012727.1:c.219T>C, XM_047422636.1:c.-91T>G, XM_047422636.1:c.-91T>C, NP_006403.2:p.Phe73Leu, NP_001012745.1:p.Phe73Leu

Select item 144302226315.

rs1443022263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136677089 (GRCh38)
9:139571541 (GRCh37)
Canonical SPDI:: NC_000009.12:136677088:C:G,NC_000009.12:136677088:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: missense_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 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136677089C>G, NC_000009.12:g.136677089C>T, NC_000009.11:g.139571541C>G, NC_000009.11:g.139571541C>T, NG_008090.1:g.15371G>C, NG_008090.1:g.15371G>A, NM_006412.4:c.364G>C, NM_006412.4:c.364G>A, NM_006412.3:c.364G>C, NM_006412.3:c.364G>A, NM_001012727.2:c.364G>C, NM_001012727.2:c.364G>A, NM_001012727.1:c.364G>C, NM_001012727.1:c.364G>A, XM_047422636.1:c.55G>C, XM_047422636.1:c.55G>A, NP_006403.2:p.Glu122Gln, NP_006403.2:p.Glu122Lys, NP_001012745.1:p.Glu122Gln, NP_001012745.1:p.Glu122Lys, XP_047278592.1:p.Glu19Gln, XP_047278592.1:p.Glu19Lys

Select item 144098887816.

rs1440988878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136676656 (GRCh38)
9:139571108 (GRCh37)
Canonical SPDI:: NC_000009.12:136676655:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136676656C>T, NC_000009.11:g.139571108C>T, NG_008090.1:g.15804G>A, NM_006412.4:c.517G>A, NM_006412.3:c.517G>A, XM_047422636.1:c.208G>A, NP_006403.2:p.Gly173Ser, XP_047278592.1:p.Gly70Ser

Select item 143967038217.

rs1439670382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136677484 (GRCh38)
9:139571936 (GRCh37)
Canonical SPDI:: NC_000009.12:136677483:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136677484C>T, NC_000009.11:g.139571936C>T, NG_008090.1:g.14976G>A, NM_006412.4:c.255G>A, NM_006412.3:c.255G>A, NM_001012727.2:c.255G>A, NM_001012727.1:c.255G>A, XM_047422636.1:c.-55G>A

Select item 143846350118.

rs1438463501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136687266 (GRCh38)
9:139581718 (GRCh37)
Canonical SPDI:: NC_000009.12:136687265:G:A
Gene:: AGPAT2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.136687266G>A, NC_000009.11:g.139581718G>A, NG_008090.1:g.5194C>T, NM_006412.4:c.92C>T, NM_006412.3:c.92C>T, NM_001012727.2:c.92C>T, NM_001012727.1:c.92C>T, NP_006403.2:p.Ala31Val, NP_001012745.1:p.Ala31Val

Select item 143799531819.

rs1437995318 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAAG>- [Show Flanks]
Chromosome:: 9:136674741 (GRCh38)
9:139569193 (GRCh37)
Canonical SPDI:: NC_000009.12:136674735:TGAAGTGAAG:TGAAG
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAAGTGAAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136674736TGAAG[1], NC_000009.11:g.139569188TGAAG[1], NG_008090.1:g.17715CTTCA[1], NM_006412.4:c.656_660del, NM_006412.3:c.656_660del, NM_001012727.2:c.560_564del, NM_001012727.1:c.560_564del, XM_047422636.1:c.347_351del, NP_006403.2:p.Thr219fs, NP_001012745.1:p.Thr187fs, XP_047278592.1:p.Thr116fs

Select item 143089389520.

rs1430893895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136677018 (GRCh38)
9:139571470 (GRCh37)
Canonical SPDI:: NC_000009.12:136677017:G:A
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136677018G>A, NC_000009.11:g.139571470G>A, NG_008090.1:g.15442C>T, NM_006412.4:c.435C>T, NM_006412.3:c.435C>T, NM_001012727.2:c.435C>T, NM_001012727.1:c.435C>T, XM_047422636.1:c.126C>T

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