Canonical Allele Identifier: CA2573150167

Gene: VSX2

Linked Data

• ClinVar Variation Id: 1665442
• ClinVar RCV Id: RCV002203203
• dbSNP Id: rs2139645991

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259791C>T , CM000676.2:g.74259791C>T	GRCh38
NC_000014.8:g.74726494C>T , CM000676.1:g.74726494C>T	GRCh37
NC_000014.7:g.73796247C>T	NCBI36
NG_013092.1:g.25320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.760+9C>T MANE Select	ENSP00000261980.2:n.760+9C>T
ENST00000261980.2:c.760+9C>T	ENSP00000261980.2:n.760+9C>T
NM_182894.2:c.760+9C>T	NP_878314.1:n.760+9C>T
XM_011536719.1:c.760+9C>T	XP_011535021.1:n.760+9C>T
NM_182894.3:c.760+9C>T MANE Select	NP_878314.1:n.760+9C>T