Canonical Allele Identifier: CA517464500
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2105347
ClinVar RCV Id: RCV003041924
MyVariant Identifiers: chrX:g.73641730C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421895C>A , CM000685.2:g.74421895C>A GRCh38
NC_000023.10:g.73641730C>A , CM000685.1:g.73641730C>A GRCh37
NC_000023.9:g.73558455C>A NCBI36
NG_011641.1:g.5646C>A
NG_011641.2:g.5646C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.258C>A MANE Select ENSP00000465734.1:p.Arg86=
ENST00000636771.1:c.4C>A
ENST00000587091.5:c.258C>A ENSP00000465734.1:p.Arg86=
NM_006517.4:c.258C>A NP_006508.2:p.Arg86=
XM_005262294.1:c.258C>A XP_005262351.1:p.Arg86=
XM_011531015.1:c.258C>A XP_011529317.1:p.Arg86=
NM_006517.5:c.258C>A MANE Select NP_006508.2:p.Arg86=