Canonical Allele Identifier: CA413656244
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338485
ClinVar RCV Id: RCV001817856
dbSNP Id: rs2147834066

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421962T>C , CM000685.2:g.74421962T>C GRCh38
NC_000023.10:g.73641797T>C , CM000685.1:g.73641797T>C GRCh37
NC_000023.9:g.73558522T>C NCBI36
NG_011641.1:g.5713T>C
NG_011641.2:g.5713T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.325T>C MANE Select ENSP00000465734.1:p.Trp109Arg
ENST00000636771.1:c.71T>C
ENST00000587091.5:c.325T>C ENSP00000465734.1:p.Trp109Arg
NM_006517.4:c.325T>C NP_006508.2:p.Trp109Arg
XM_005262294.1:c.325T>C XP_005262351.1:p.Trp109Arg
XM_011531015.1:c.325T>C XP_011529317.1:p.Trp109Arg
NM_006517.5:c.325T>C MANE Select NP_006508.2:p.Trp109Arg