Canonical Allele Identifier: CA203150
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197896
ClinVar RCV Id: RCV000179038 RCV000349216 RCV000394774 RCV001618334 RCV001826913
dbSNP Id: rs62006815
ExAC: 14:74727367 G / A
gnomAD v2: 14-74727367-G-A
gnomAD v3: 14-74260664-G-A
gnomAD v4: 14-74260664-G-A
MyVariant Identifiers: chr14:g.74727367G>A (hg19) chr14:g.74260664G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74260664G>A , CM000676.2:g.74260664G>A GRCh38
NC_000014.8:g.74727367G>A , CM000676.1:g.74727367G>A GRCh37
NC_000014.7:g.73797120G>A NCBI36
NG_013092.1:g.26193G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.831G>A MANE Select ENSP00000261980.2:p.Leu277=
ENST00000261980.2:c.831G>A ENSP00000261980.2:p.Leu277=
NM_182894.2:c.831G>A NP_878314.1:p.Leu277=
XM_011536719.1:c.888G>A XP_011535021.1:p.Leu296=
NM_182894.3:c.831G>A MANE Select NP_878314.1:p.Leu277=
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