Canonical Allele Identifier: CA390369202
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1172201931
gnomAD v2: 14-74726344-G-A
gnomAD v4: 14-74259641-G-A
MyVariant Identifiers: chr14:g.74726344G>A (hg19) chr14:g.74259641G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259641G>A , CM000676.2:g.74259641G>A GRCh38
NC_000014.8:g.74726344G>A , CM000676.1:g.74726344G>A GRCh37
NC_000014.7:g.73796097G>A NCBI36
NG_013092.1:g.25170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.619G>A MANE Select ENSP00000261980.2:p.Glu207Lys
ENST00000261980.2:c.619G>A ENSP00000261980.2:p.Glu207Lys
NM_182894.2:c.619G>A NP_878314.1:p.Glu207Lys
XM_011536719.1:c.619G>A XP_011535021.1:p.Glu207Lys
NM_182894.3:c.619G>A MANE Select NP_878314.1:p.Glu207Lys
Search 100 bp 5'
Search 100 bp 3'