Canonical Allele Identifier: CA7266401

Gene: VSX2

Linked Data

• ClinVar Variation Id: 1123691
• ClinVar RCV Id: RCV001454831
• dbSNP Id: rs776836285
• ExAC: 14:74726343 G / A
• gnomAD v2: 14-74726343-G-A
• MyVariant Identifiers: chr14:g.74726343G>A (hg19) ; chr14:g.74259640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259640G>A , CM000676.2:g.74259640G>A	GRCh38
NC_000014.8:g.74726343G>A , CM000676.1:g.74726343G>A	GRCh37
NC_000014.7:g.73796096G>A	NCBI36
NG_013092.1:g.25169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.618G>A MANE Select	ENSP00000261980.2:p.Arg206=
ENST00000261980.2:c.618G>A	ENSP00000261980.2:p.Arg206=
NM_182894.2:c.618G>A	NP_878314.1:p.Arg206=
XM_011536719.1:c.618G>A	XP_011535021.1:p.Arg206=
NM_182894.3:c.618G>A MANE Select	NP_878314.1:p.Arg206=