SNP Links for Protein (Select 938148789) - SNP

Links from Protein

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Select item 14867755761.

rs1486775576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61163139 (GRCh38)
2:61390274 (GRCh37)
Canonical SPDI:: NC_000002.12:61163138:C:T
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61163139C>T, NC_000002.11:g.61390274C>T, NM_001143959.4:c.297C>T, NM_001143959.3:c.297C>T, NM_001143959.2:c.318C>T, NM_001143959.1:c.318C>T, NM_001143960.3:c.81C>T, NM_001143960.2:c.81C>T, NM_001143960.1:c.81C>T, NM_001316317.2:c.81C>T, NM_001316317.1:c.81C>T, NM_001367070.1:c.81C>T, NM_001367069.1:c.81C>T, NM_001367071.1:c.81C>T

Select item 14747971012.

rs1474797101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:61164517 (GRCh38)
2:61391652 (GRCh37)
Canonical SPDI:: NC_000002.12:61164516:A:G,NC_000002.12:61164516:A:T
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.61164517A>G, NC_000002.12:g.61164517A>T, NC_000002.11:g.61391652A>G, NC_000002.11:g.61391652A>T, NM_001143959.4:c.554A>G, NM_001143959.4:c.554A>T, NM_001143959.3:c.554A>G, NM_001143959.3:c.554A>T, NM_001143959.2:c.575A>G, NM_001143959.2:c.575A>T, NM_001143959.1:c.575A>G, NM_001143959.1:c.575A>T, NM_001143960.3:c.338A>G, NM_001143960.3:c.338A>T, NM_001143960.2:c.338A>G, NM_001143960.2:c.338A>T, NM_001143960.1:c.338A>G, NM_001143960.1:c.338A>T, NM_001316317.2:c.338A>G, NM_001316317.2:c.338A>T, NM_001316317.1:c.338A>G, NM_001316317.1:c.338A>T, NM_001367070.1:c.338A>G, NM_001367070.1:c.338A>T, NM_001367069.1:c.338A>G, NM_001367069.1:c.338A>T, NM_001367071.1:c.338A>G, NM_001367071.1:c.338A>T, NP_001137431.2:p.Glu185Gly, NP_001137431.2:p.Glu185Val, NP_001137432.1:p.Glu113Gly, NP_001137432.1:p.Glu113Val, NP_001303246.1:p.Glu113Gly, NP_001303246.1:p.Glu113Val, NP_001353999.1:p.Glu113Gly, NP_001353999.1:p.Glu113Val, NP_001353998.1:p.Glu113Gly, NP_001353998.1:p.Glu113Val, NP_001354000.1:p.Glu113Gly, NP_001354000.1:p.Glu113Val

Select item 14679684893.

rs1467968489 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:61164525 (GRCh38)
2:61391660 (GRCh37)
Canonical SPDI:: NC_000002.12:61164524:TG:
Gene:: C2orf74 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.001/9 (ALFA)
HGVS:: NC_000002.12:g.61164525_61164526del, NC_000002.11:g.61391660_61391661del, NM_001143959.4:c.562_563del, NM_001143959.3:c.562_563del, NM_001143959.2:c.583_584del, NM_001143959.1:c.583_584del, NM_001143960.3:c.346_347del, NM_001143960.2:c.346_347del, NM_001143960.1:c.346_347del, NM_001316317.2:c.346_347del, NM_001316317.1:c.346_347del, NM_001367070.1:c.346_347del, NM_001367069.1:c.346_347del, NM_001367071.1:c.346_347del, NP_001137431.2:p.Ter188LysextTer?, NP_001137432.1:p.Ter116LysextTer?, NP_001303246.1:p.Ter116LysextTer?, NP_001353999.1:p.Ter116LysextTer?, NP_001353998.1:p.Ter116LysextTer?, NP_001354000.1:p.Ter116LysextTer?

Select item 14602882004.

rs1460288200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:61164466 (GRCh38)
2:61391601 (GRCh37)
Canonical SPDI:: NC_000002.12:61164465:A:T
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61164466A>T, NC_000002.11:g.61391601A>T, NM_001143959.4:c.503A>T, NM_001143959.3:c.503A>T, NM_001143959.2:c.524A>T, NM_001143959.1:c.524A>T, NM_001143960.3:c.287A>T, NM_001143960.2:c.287A>T, NM_001143960.1:c.287A>T, NM_001316317.2:c.287A>T, NM_001316317.1:c.287A>T, NM_001367070.1:c.287A>T, NM_001367069.1:c.287A>T, NM_001367071.1:c.287A>T, NP_001137431.2:p.Asp168Val, NP_001137432.1:p.Asp96Val, NP_001303246.1:p.Asp96Val, NP_001353999.1:p.Asp96Val, NP_001353998.1:p.Asp96Val, NP_001354000.1:p.Asp96Val

Select item 14542742895.

rs1454274289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:61163108 (GRCh38)
2:61390243 (GRCh37)
Canonical SPDI:: NC_000002.12:61163107:A:C
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.61163108A>C, NC_000002.11:g.61390243A>C, NM_001143959.4:c.266A>C, NM_001143959.3:c.266A>C, NM_001143959.2:c.287A>C, NM_001143959.1:c.287A>C, NM_001143960.3:c.50A>C, NM_001143960.2:c.50A>C, NM_001143960.1:c.50A>C, NM_001316317.2:c.50A>C, NM_001316317.1:c.50A>C, NM_001367070.1:c.50A>C, NM_001367069.1:c.50A>C, NM_001367071.1:c.50A>C, NP_001137431.2:p.Gln89Pro, NP_001137432.1:p.Gln17Pro, NP_001303246.1:p.Gln17Pro, NP_001353999.1:p.Gln17Pro, NP_001353998.1:p.Gln17Pro, NP_001354000.1:p.Gln17Pro

Select item 14534344036.

rs1453434403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61163079 (GRCh38)
2:61390214 (GRCh37)
Canonical SPDI:: NC_000002.12:61163078:T:C
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.61163079T>C, NC_000002.11:g.61390214T>C, NM_001143959.4:c.237T>C, NM_001143959.3:c.237T>C, NM_001143959.2:c.258T>C, NM_001143959.1:c.258T>C, NM_001143960.3:c.21T>C, NM_001143960.2:c.21T>C, NM_001143960.1:c.21T>C, NM_001316317.2:c.21T>C, NM_001316317.1:c.21T>C, NM_001367070.1:c.21T>C, NM_001367069.1:c.21T>C, NM_001367071.1:c.21T>C

Select item 14472564877.

rs1447256487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61163065 (GRCh38)
2:61390200 (GRCh37)
Canonical SPDI:: NC_000002.12:61163064:G:A
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.61163065G>A, NC_000002.11:g.61390200G>A, NM_001143959.4:c.223G>A, NM_001143959.3:c.223G>A, NM_001143959.2:c.244G>A, NM_001143959.1:c.244G>A, NM_001143960.3:c.7G>A, NM_001143960.2:c.7G>A, NM_001143960.1:c.7G>A, NM_001316317.2:c.7G>A, NM_001316317.1:c.7G>A, NM_001367070.1:c.7G>A, NM_001367069.1:c.7G>A, NM_001367071.1:c.7G>A, NP_001137431.2:p.Val75Ile, NP_001137432.1:p.Val3Ile, NP_001303246.1:p.Val3Ile, NP_001353999.1:p.Val3Ile, NP_001353998.1:p.Val3Ile, NP_001354000.1:p.Val3Ile

Select item 14470433678.

rs1447043367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:61164472 (GRCh38)
2:61391607 (GRCh37)
Canonical SPDI:: NC_000002.12:61164471:G:T
Gene:: C2orf74 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61164472G>T, NC_000002.11:g.61391607G>T, NM_001143959.4:c.509G>T, NM_001143959.3:c.509G>T, NM_001143959.2:c.530G>T, NM_001143959.1:c.530G>T, NM_001143960.3:c.293G>T, NM_001143960.2:c.293G>T, NM_001143960.1:c.293G>T, NM_001316317.2:c.293G>T, NM_001316317.1:c.293G>T, NM_001367070.1:c.293G>T, NM_001367069.1:c.293G>T, NM_001367071.1:c.293G>T, NP_001137431.2:p.Gly170Val, NP_001137432.1:p.Gly98Val, NP_001303246.1:p.Gly98Val, NP_001353999.1:p.Gly98Val, NP_001353998.1:p.Gly98Val, NP_001354000.1:p.Gly98Val

Select item 14444641739.

rs1444464173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61164511 (GRCh38)
2:61391646 (GRCh37)
Canonical SPDI:: NC_000002.12:61164510:A:G
Gene:: C2orf74 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61164511A>G, NC_000002.11:g.61391646A>G, NM_001143959.4:c.548A>G, NM_001143959.3:c.548A>G, NM_001143959.2:c.569A>G, NM_001143959.1:c.569A>G, NM_001143960.3:c.332A>G, NM_001143960.2:c.332A>G, NM_001143960.1:c.332A>G, NM_001316317.2:c.332A>G, NM_001316317.1:c.332A>G, NM_001367070.1:c.332A>G, NM_001367069.1:c.332A>G, NM_001367071.1:c.332A>G, NP_001137431.2:p.His183Arg, NP_001137432.1:p.His111Arg, NP_001303246.1:p.His111Arg, NP_001353999.1:p.His111Arg, NP_001353998.1:p.His111Arg, NP_001354000.1:p.His111Arg

Select item 144107462210.

rs1441074622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61164360 (GRCh38)
2:61391495 (GRCh37)
Canonical SPDI:: NC_000002.12:61164359:G:A
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61164360G>A, NC_000002.11:g.61391495G>A, NM_001143959.4:c.397G>A, NM_001143959.3:c.397G>A, NM_001143959.2:c.418G>A, NM_001143959.1:c.418G>A, NM_001143960.3:c.181G>A, NM_001143960.2:c.181G>A, NM_001143960.1:c.181G>A, NM_001316317.2:c.181G>A, NM_001316317.1:c.181G>A, NM_001367070.1:c.181G>A, NM_001367069.1:c.181G>A, NM_001367071.1:c.181G>A, NP_001137431.2:p.Gly133Ser, NP_001137432.1:p.Gly61Ser, NP_001303246.1:p.Gly61Ser, NP_001353999.1:p.Gly61Ser, NP_001353998.1:p.Gly61Ser, NP_001354000.1:p.Gly61Ser

Select item 143728456611.

rs1437284566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:61164452 (GRCh38)
2:61391587 (GRCh37)
Canonical SPDI:: NC_000002.12:61164451:G:A,NC_000002.12:61164451:G:C
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000002.12:g.61164452G>A, NC_000002.12:g.61164452G>C, NC_000002.11:g.61391587G>A, NC_000002.11:g.61391587G>C, NM_001143959.4:c.489G>A, NM_001143959.4:c.489G>C, NM_001143959.3:c.489G>A, NM_001143959.3:c.489G>C, NM_001143959.2:c.510G>A, NM_001143959.2:c.510G>C, NM_001143959.1:c.510G>A, NM_001143959.1:c.510G>C, NM_001143960.3:c.273G>A, NM_001143960.3:c.273G>C, NM_001143960.2:c.273G>A, NM_001143960.2:c.273G>C, NM_001143960.1:c.273G>A, NM_001143960.1:c.273G>C, NM_001316317.2:c.273G>A, NM_001316317.2:c.273G>C, NM_001316317.1:c.273G>A, NM_001316317.1:c.273G>C, NM_001367070.1:c.273G>A, NM_001367070.1:c.273G>C, NM_001367069.1:c.273G>A, NM_001367069.1:c.273G>C, NM_001367071.1:c.273G>A, NM_001367071.1:c.273G>C, NP_001137431.2:p.Glu163Asp, NP_001137432.1:p.Glu91Asp, NP_001303246.1:p.Glu91Asp, NP_001353999.1:p.Glu91Asp, NP_001353998.1:p.Glu91Asp, NP_001354000.1:p.Glu91Asp

Select item 142866397512.

rs1428663975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61163068 (GRCh38)
2:61390203 (GRCh37)
Canonical SPDI:: NC_000002.12:61163067:A:G
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61163068A>G, NC_000002.11:g.61390203A>G, NM_001143959.4:c.226A>G, NM_001143959.3:c.226A>G, NM_001143959.2:c.247A>G, NM_001143959.1:c.247A>G, NM_001143960.3:c.10A>G, NM_001143960.2:c.10A>G, NM_001143960.1:c.10A>G, NM_001316317.2:c.10A>G, NM_001316317.1:c.10A>G, NM_001367070.1:c.10A>G, NM_001367069.1:c.10A>G, NM_001367071.1:c.10A>G, NP_001137431.2:p.Met76Val, NP_001137432.1:p.Met4Val, NP_001303246.1:p.Met4Val, NP_001353999.1:p.Met4Val, NP_001353998.1:p.Met4Val, NP_001354000.1:p.Met4Val

Select item 142513299413.

rs1425132994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:61164519 (GRCh38)
2:61391654 (GRCh37)
Canonical SPDI:: NC_000002.12:61164518:A:C
Gene:: C2orf74 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.61164519A>C, NC_000002.11:g.61391654A>C, NM_001143959.4:c.556A>C, NM_001143959.3:c.556A>C, NM_001143959.2:c.577A>C, NM_001143959.1:c.577A>C, NM_001143960.3:c.340A>C, NM_001143960.2:c.340A>C, NM_001143960.1:c.340A>C, NM_001316317.2:c.340A>C, NM_001316317.1:c.340A>C, NM_001367070.1:c.340A>C, NM_001367069.1:c.340A>C, NM_001367071.1:c.340A>C

Select item 142337388014.

rs1423373880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:61163213 (GRCh38)
2:61390348 (GRCh37)
Canonical SPDI:: NC_000002.12:61163212:G:C
Gene:: C2orf74 (Varview), LOC105374758 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61163213G>C, NC_000002.11:g.61390348G>C, NM_001143959.4:c.371G>C, NM_001143959.3:c.371G>C, NM_001143959.2:c.392G>C, NM_001143959.1:c.392G>C, NM_001143960.3:c.155G>C, NM_001143960.2:c.155G>C, NM_001143960.1:c.155G>C, NM_001316317.2:c.155G>C, NM_001316317.1:c.155G>C, NM_001367070.1:c.155G>C, NM_001367069.1:c.155G>C, NM_001367071.1:c.155G>C, NP_001137431.2:p.Gly124Ala, NP_001137432.1:p.Gly52Ala, NP_001303246.1:p.Gly52Ala, NP_001353999.1:p.Gly52Ala, NP_001353998.1:p.Gly52Ala, NP_001354000.1:p.Gly52Ala

Select item 142298039915.

rs1422980399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61164358 (GRCh38)
2:61391493 (GRCh37)
Canonical SPDI:: NC_000002.12:61164357:A:G
Gene:: C2orf74 (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 (TOPMED)
HGVS:: NC_000002.12:g.61164358A>G, NC_000002.11:g.61391493A>G, NM_001143959.4:c.395A>G, NM_001143959.3:c.395A>G, NM_001143959.2:c.416A>G, NM_001143959.1:c.416A>G, NM_001143960.3:c.179A>G, NM_001143960.2:c.179A>G, NM_001143960.1:c.179A>G, NM_001316317.2:c.179A>G, NM_001316317.1:c.179A>G, NM_001367070.1:c.179A>G, NM_001367069.1:c.179A>G, NM_001367071.1:c.179A>G, NP_001137431.2:p.Asp132Gly, NP_001137432.1:p.Asp60Gly, NP_001303246.1:p.Asp60Gly, NP_001353999.1:p.Asp60Gly, NP_001353998.1:p.Asp60Gly, NP_001354000.1:p.Asp60Gly

Select item 141957777016.

rs1419577770 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:61164403 (GRCh38)
2:61391538 (GRCh37)
Canonical SPDI:: NC_000002.12:61164402:TT:T
Gene:: C2orf74 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000142/2 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.61164404del, NC_000002.11:g.61391539del, NM_001143959.4:c.441del, NM_001143959.3:c.441del, NM_001143959.2:c.462del, NM_001143959.1:c.462del, NM_001143960.3:c.225del, NM_001143960.2:c.225del, NM_001143960.1:c.225del, NM_001316317.2:c.225del, NM_001316317.1:c.225del, NM_001367070.1:c.225del, NM_001367069.1:c.225del, NM_001367071.1:c.225del, NP_001137431.2:p.Val148fs, NP_001137432.1:p.Val76fs, NP_001303246.1:p.Val76fs, NP_001353999.1:p.Val76fs, NP_001353998.1:p.Val76fs, NP_001354000.1:p.Val76fs

Select item 141617537417.

rs1416175374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61164363 (GRCh38)
2:61391498 (GRCh37)
Canonical SPDI:: NC_000002.12:61164362:T:C
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.61164363T>C, NC_000002.11:g.61391498T>C, NM_001143959.4:c.400T>C, NM_001143959.3:c.400T>C, NM_001143959.2:c.421T>C, NM_001143959.1:c.421T>C, NM_001143960.3:c.184T>C, NM_001143960.2:c.184T>C, NM_001143960.1:c.184T>C, NM_001316317.2:c.184T>C, NM_001316317.1:c.184T>C, NM_001367070.1:c.184T>C, NM_001367069.1:c.184T>C, NM_001367071.1:c.184T>C

Select item 141037020518.

rs1410370205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:61164477 (GRCh38)
2:61391613 (GRCh37)
Canonical SPDI:: NC_000002.12:61164477:AA:AAA
Gene:: C2orf74 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61164479dup, NC_000002.11:g.61391614dup, NM_001143959.4:c.516dup, NM_001143959.3:c.516dup, NM_001143959.2:c.537dup, NM_001143959.1:c.537dup, NM_001143960.3:c.300dup, NM_001143960.2:c.300dup, NM_001143960.1:c.300dup, NM_001316317.2:c.300dup, NM_001316317.1:c.300dup, NM_001367070.1:c.300dup, NM_001367069.1:c.300dup, NM_001367071.1:c.300dup, NP_001137431.2:p.Tyr173fs, NP_001137432.1:p.Tyr101fs, NP_001303246.1:p.Tyr101fs, NP_001353999.1:p.Tyr101fs, NP_001353998.1:p.Tyr101fs, NP_001354000.1:p.Tyr101fs

Select item 140949355119.

rs1409493551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:61164426 (GRCh38)
2:61391561 (GRCh37)
Canonical SPDI:: NC_000002.12:61164425:T:A
Gene:: C2orf74 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.61164426T>A, NC_000002.11:g.61391561T>A, NM_001143959.4:c.463T>A, NM_001143959.3:c.463T>A, NM_001143959.2:c.484T>A, NM_001143959.1:c.484T>A, NM_001143960.3:c.247T>A, NM_001143960.2:c.247T>A, NM_001143960.1:c.247T>A, NM_001316317.2:c.247T>A, NM_001316317.1:c.247T>A, NM_001367070.1:c.247T>A, NM_001367069.1:c.247T>A, NM_001367071.1:c.247T>A, NP_001137431.2:p.Leu155Ile, NP_001137432.1:p.Leu83Ile, NP_001303246.1:p.Leu83Ile, NP_001353999.1:p.Leu83Ile, NP_001353998.1:p.Leu83Ile, NP_001354000.1:p.Leu83Ile

Select item 140648790320.

rs1406487903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61164482 (GRCh38)
2:61391617 (GRCh37)
Canonical SPDI:: NC_000002.12:61164481:C:T
Gene:: C2orf74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.61164482C>T, NC_000002.11:g.61391617C>T, NM_001143959.4:c.519C>T, NM_001143959.3:c.519C>T, NM_001143959.2:c.540C>T, NM_001143959.1:c.540C>T, NM_001143960.3:c.303C>T, NM_001143960.2:c.303C>T, NM_001143960.1:c.303C>T, NM_001316317.2:c.303C>T, NM_001316317.1:c.303C>T, NM_001367070.1:c.303C>T, NM_001367069.1:c.303C>T, NM_001367071.1:c.303C>T

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