Canonical Allele Identifier: CA7266416

Gene: VSX2

Linked Data

• ClinVar Variation Id: 281326
• ClinVar RCV Id: RCV000394016 ; RCV001087322 ; RCV001275443
• dbSNP Id: rs377107974
• ExAC: 14:74726439 G / A
• gnomAD v2: 14-74726439-G-A
• gnomAD v3: 14-74259736-G-A
• gnomAD v4: 14-74259736-G-A
• MyVariant Identifiers: chr14:g.74726439G>A (hg19) ; chr14:g.74259736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259736G>A , CM000676.2:g.74259736G>A	GRCh38
NC_000014.8:g.74726439G>A , CM000676.1:g.74726439G>A	GRCh37
NC_000014.7:g.73796192G>A	NCBI36
NG_013092.1:g.25265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.714G>A MANE Select	ENSP00000261980.2:p.Lys238=
ENST00000261980.2:c.714G>A	ENSP00000261980.2:p.Lys238=
NM_182894.2:c.714G>A	NP_878314.1:p.Lys238=
XM_011536719.1:c.714G>A	XP_011535021.1:p.Lys238=
NM_182894.3:c.714G>A MANE Select	NP_878314.1:p.Lys238=