Canonical Allele Identifier: CA487155817
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1640133
ClinVar RCV Id: RCV002131571
dbSNP Id: rs768459071
MyVariant Identifiers: chr14:g.74726323C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259620C>A , CM000676.2:g.74259620C>A GRCh38
NC_000014.8:g.74726323C>A , CM000676.1:g.74726323C>A GRCh37
NC_000014.7:g.73796076C>A NCBI36
NG_013092.1:g.25149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.598C>A MANE Select ENSP00000261980.2:p.Arg200=
ENST00000261980.2:c.598C>A ENSP00000261980.2:p.Arg200=
NM_182894.2:c.598C>A NP_878314.1:p.Arg200=
XM_011536719.1:c.598C>A XP_011535021.1:p.Arg200=
NM_182894.3:c.598C>A MANE Select NP_878314.1:p.Arg200=
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