Canonical Allele Identifier: CA413656250
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 592273
ClinVar RCV Id: RCV000727602
dbSNP Id: rs1569281190

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421964G>A , CM000685.2:g.74421964G>A GRCh38
NC_000023.10:g.73641799G>A , CM000685.1:g.73641799G>A GRCh37
NC_000023.9:g.73558524G>A NCBI36
NG_011641.1:g.5715G>A
NG_011641.2:g.5715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.327G>A MANE Select ENSP00000465734.1:p.Trp109Ter
ENST00000636771.1:c.73G>A
ENST00000587091.5:c.327G>A ENSP00000465734.1:p.Trp109Ter
NM_006517.4:c.327G>A NP_006508.2:p.Trp109Ter
XM_005262294.1:c.327G>A XP_005262351.1:p.Trp109Ter
XM_011531015.1:c.327G>A XP_011529317.1:p.Trp109Ter
NM_006517.5:c.327G>A MANE Select NP_006508.2:p.Trp109Ter