Canonical Allele Identifier: CA390369471

Gene: VSX2

Linked Data

• MyVariant Identifiers: chr14:g.74726465C>G (hg19) ; chr14:g.74259762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259762C>G , CM000676.2:g.74259762C>G	GRCh38
NC_000014.8:g.74726465C>G , CM000676.1:g.74726465C>G	GRCh37
NC_000014.7:g.73796218C>G	NCBI36
NG_013092.1:g.25291C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.740C>G MANE Select	ENSP00000261980.2:p.Ser247Cys
ENST00000261980.2:c.740C>G	ENSP00000261980.2:p.Ser247Cys
NM_182894.2:c.740C>G	NP_878314.1:p.Ser247Cys
XM_011536719.1:c.740C>G	XP_011535021.1:p.Ser247Cys
NM_182894.3:c.740C>G MANE Select	NP_878314.1:p.Ser247Cys