Canonical Allele Identifier: CA390369271

Gene: VSX2

Linked Data

• MyVariant Identifiers: chr14:g.74726373G>T (hg19) ; chr14:g.74259670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259670G>T , CM000676.2:g.74259670G>T	GRCh38
NC_000014.8:g.74726373G>T , CM000676.1:g.74726373G>T	GRCh37
NC_000014.7:g.73796126G>T	NCBI36
NG_013092.1:g.25199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.648G>T MANE Select	ENSP00000261980.2:p.Met216Ile
ENST00000261980.2:c.648G>T	ENSP00000261980.2:p.Met216Ile
NM_182894.2:c.648G>T	NP_878314.1:p.Met216Ile
XM_011536719.1:c.648G>T	XP_011535021.1:p.Met216Ile
NM_182894.3:c.648G>T MANE Select	NP_878314.1:p.Met216Ile