Canonical Allele Identifier: CA390369463

Gene: VSX2

Linked Data

• MyVariant Identifiers: chr14:g.74726462A>T (hg19) ; chr14:g.74259759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259759A>T , CM000676.2:g.74259759A>T	GRCh38
NC_000014.8:g.74726462A>T , CM000676.1:g.74726462A>T	GRCh37
NC_000014.7:g.73796215A>T	NCBI36
NG_013092.1:g.25288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.737A>T MANE Select	ENSP00000261980.2:p.Asp246Val
ENST00000261980.2:c.737A>T	ENSP00000261980.2:p.Asp246Val
NM_182894.2:c.737A>T	NP_878314.1:p.Asp246Val
XM_011536719.1:c.737A>T	XP_011535021.1:p.Asp246Val
NM_182894.3:c.737A>T MANE Select	NP_878314.1:p.Asp246Val