Canonical Allele Identifier: CA7266434

Gene: VSX2

Linked Data

• dbSNP Id: rs202227309
• ExAC: 14:74726505 T / C
• gnomAD v2: 14-74726505-T-C
• gnomAD v3: 14-74259802-T-C
• gnomAD v4: 14-74259802-T-C
• MyVariant Identifiers: chr14:g.74726505T>C (hg19) ; chr14:g.74259802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259802T>C , CM000676.2:g.74259802T>C	GRCh38
NC_000014.8:g.74726505T>C , CM000676.1:g.74726505T>C	GRCh37
NC_000014.7:g.73796258T>C	NCBI36
NG_013092.1:g.25331T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.760+20T>C MANE Select	ENSP00000261980.2:n.760+20T>C
ENST00000261980.2:c.760+20T>C	ENSP00000261980.2:n.760+20T>C
NM_182894.2:c.760+20T>C	NP_878314.1:n.760+20T>C
XM_011536719.1:c.760+20T>C	XP_011535021.1:n.760+20T>C
NM_182894.3:c.760+20T>C MANE Select	NP_878314.1:n.760+20T>C