Canonical Allele Identifier: CA10640902
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314218
ClinVar RCV Id: RCV000340696 RCV000403192 RCV001597073
dbSNP Id: rs34263984
gnomAD v2: 14-74728696-C-T
gnomAD v3: 14-74261993-C-T
gnomAD v4: 14-74261993-C-T
MyVariant Identifiers: chr14:g.74728696C>T (hg19) chr14:g.74261993C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74261993C>T , CM000676.2:g.74261993C>T GRCh38
NC_000014.8:g.74728696C>T , CM000676.1:g.74728696C>T GRCh37
NC_000014.7:g.73798449C>T NCBI36
NG_013092.1:g.27522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.*1074C>T MANE Select ENSP00000261980.2:n.*1074C>T
ENST00000261980.2:c.*1074C>T ENSP00000261980.2:n.*1074C>T
NM_182894.2:c.*1074C>T NP_878314.1:n.*1074C>T
XM_011536719.1:c.2217C>T XP_011535021.1:n.2217C>T
NM_182894.3:c.*1074C>T MANE Select NP_878314.1:n.*1074C>T
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