Canonical Allele Identifier: CA487155893
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108138
ClinVar RCV Id: RCV003017584
MyVariant Identifiers: chr14:g.74726394G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259691G>T , CM000676.2:g.74259691G>T GRCh38
NC_000014.8:g.74726394G>T , CM000676.1:g.74726394G>T GRCh37
NC_000014.7:g.73796147G>T NCBI36
NG_013092.1:g.25220G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.669G>T MANE Select ENSP00000261980.2:p.Gly223=
ENST00000261980.2:c.669G>T ENSP00000261980.2:p.Gly223=
NM_182894.2:c.669G>T NP_878314.1:p.Gly223=
XM_011536719.1:c.669G>T XP_011535021.1:p.Gly223=
NM_182894.3:c.669G>T MANE Select NP_878314.1:p.Gly223=