Canonical Allele Identifier: CA7266428
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1100520
ClinVar RCV Id: RCV001423154
dbSNP Id: rs778725287
ExAC: 14:74726492 G / A
gnomAD v2: 14-74726492-G-A
MyVariant Identifiers: chr14:g.74726492G>A (hg19) chr14:g.74259789G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259789G>A , CM000676.2:g.74259789G>A GRCh38
NC_000014.8:g.74726492G>A , CM000676.1:g.74726492G>A GRCh37
NC_000014.7:g.73796245G>A NCBI36
NG_013092.1:g.25318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.760+7G>A MANE Select ENSP00000261980.2:n.760+7G>A
ENST00000261980.2:c.760+7G>A ENSP00000261980.2:n.760+7G>A
NM_182894.2:c.760+7G>A NP_878314.1:n.760+7G>A
XM_011536719.1:c.760+7G>A XP_011535021.1:n.760+7G>A
NM_182894.3:c.760+7G>A MANE Select NP_878314.1:n.760+7G>A
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