Canonical Allele Identifier: CA7266452
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314198
ClinVar RCV Id: RCV000288252 RCV000345660
dbSNP Id: rs371707151
ExAC: 14:74727313 G / T
gnomAD v2: 14-74727313-G-T
gnomAD v3: 14-74260610-G-T
gnomAD v4: 14-74260610-G-T
MyVariant Identifiers: chr14:g.74727313G>T (hg19) chr14:g.74260610G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74260610G>T , CM000676.2:g.74260610G>T GRCh38
NC_000014.8:g.74727313G>T , CM000676.1:g.74727313G>T GRCh37
NC_000014.7:g.73797066G>T NCBI36
NG_013092.1:g.26139G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.777G>T MANE Select ENSP00000261980.2:p.Ser259=
ENST00000261980.2:c.777G>T ENSP00000261980.2:p.Ser259=
NM_182894.2:c.777G>T NP_878314.1:p.Ser259=
XM_011536719.1:c.834G>T XP_011535021.1:p.Ser278=
NM_182894.3:c.777G>T MANE Select NP_878314.1:p.Ser259=
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