Canonical Allele Identifier: CA390369275
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 885150
ClinVar RCV Id: RCV001116574 RCV001116575
dbSNP Id: rs2079290458
MyVariant Identifiers: chr14:g.74726374G>C (hg19) chr14:g.74259671G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259671G>C , CM000676.2:g.74259671G>C GRCh38
NC_000014.8:g.74726374G>C , CM000676.1:g.74726374G>C GRCh37
NC_000014.7:g.73796127G>C NCBI36
NG_013092.1:g.25200G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.649G>C MANE Select ENSP00000261980.2:p.Ala217Pro
ENST00000261980.2:c.649G>C ENSP00000261980.2:p.Ala217Pro
NM_182894.2:c.649G>C NP_878314.1:p.Ala217Pro
XM_011536719.1:c.649G>C XP_011535021.1:p.Ala217Pro
NM_182894.3:c.649G>C MANE Select NP_878314.1:p.Ala217Pro
Search 100 bp 5'
Search 100 bp 3'