Canonical Allele Identifier: CA10640897
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314209
ClinVar RCV Id: RCV000281917 RCV000339327
dbSNP Id: rs141741225
gnomAD v2: 14-74727778-G-A
gnomAD v3: 14-74261075-G-A
gnomAD v4: 14-74261075-G-A
MyVariant Identifiers: chr14:g.74727778G>A (hg19) chr14:g.74261075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74261075G>A , CM000676.2:g.74261075G>A GRCh38
NC_000014.8:g.74727778G>A , CM000676.1:g.74727778G>A GRCh37
NC_000014.7:g.73797531G>A NCBI36
NG_013092.1:g.26604G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.*156G>A MANE Select ENSP00000261980.2:n.*156G>A
ENST00000261980.2:c.*156G>A ENSP00000261980.2:n.*156G>A
NM_182894.2:c.*156G>A NP_878314.1:n.*156G>A
XM_011536719.1:c.1299G>A XP_011535021.1:n.1299G>A
NM_182894.3:c.*156G>A MANE Select NP_878314.1:n.*156G>A
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