Canonical Allele Identifier: CA7266481
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314200
ClinVar RCV Id: RCV000313331 RCV000351791 RCV003165846
dbSNP Id: rs375426810
ExAC: 14:74727399 G / A
gnomAD v2: 14-74727399-G-A
gnomAD v3: 14-74260696-G-A
gnomAD v4: 14-74260696-G-A
MyVariant Identifiers: chr14:g.74727399G>A (hg19) chr14:g.74260696G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74260696G>A , CM000676.2:g.74260696G>A GRCh38
NC_000014.8:g.74727399G>A , CM000676.1:g.74727399G>A GRCh37
NC_000014.7:g.73797152G>A NCBI36
NG_013092.1:g.26225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.863G>A MANE Select ENSP00000261980.2:p.Arg288Gln
ENST00000261980.2:c.863G>A ENSP00000261980.2:p.Arg288Gln
NM_182894.2:c.863G>A NP_878314.1:p.Arg288Gln
XM_011536719.1:c.920G>A XP_011535021.1:p.Arg307Gln
NM_182894.3:c.863G>A MANE Select NP_878314.1:p.Arg288Gln
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