Canonical Allele Identifier: CA390369054

Gene: VSX2

Linked Data

• MyVariant Identifiers: chr14:g.74726316G>C (hg19) ; chr14:g.74259613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259613G>C , CM000676.2:g.74259613G>C	GRCh38
NC_000014.8:g.74726316G>C , CM000676.1:g.74726316G>C	GRCh37
NC_000014.7:g.73796069G>C	NCBI36
NG_013092.1:g.25142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.591G>C MANE Select	ENSP00000261980.2:p.Gln197His
ENST00000261980.2:c.591G>C	ENSP00000261980.2:p.Gln197His
NM_182894.2:c.591G>C	NP_878314.1:p.Gln197His
XM_011536719.1:c.591G>C	XP_011535021.1:p.Gln197His
NM_182894.3:c.591G>C MANE Select	NP_878314.1:p.Gln197His