Canonical Allele Identifier: CA7266431
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 886059
ClinVar RCV Id: RCV001118025 RCV001118026
dbSNP Id: rs777886580
ExAC: 14:74726496 G / A
gnomAD v2: 14-74726496-G-A
gnomAD v3: 14-74259793-G-A
gnomAD v4: 14-74259793-G-A
MyVariant Identifiers: chr14:g.74726496G>A (hg19) chr14:g.74259793G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259793G>A , CM000676.2:g.74259793G>A GRCh38
NC_000014.8:g.74726496G>A , CM000676.1:g.74726496G>A GRCh37
NC_000014.7:g.73796249G>A NCBI36
NG_013092.1:g.25322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.760+11G>A MANE Select ENSP00000261980.2:n.760+11G>A
ENST00000261980.2:c.760+11G>A ENSP00000261980.2:n.760+11G>A
NM_182894.2:c.760+11G>A NP_878314.1:n.760+11G>A
XM_011536719.1:c.760+11G>A XP_011535021.1:n.760+11G>A
NM_182894.3:c.760+11G>A MANE Select NP_878314.1:n.760+11G>A
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