Canonical Allele Identifier: CA413655988
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v4: X-74421840-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421840A>C , CM000685.2:g.74421840A>C GRCh38
NC_000023.10:g.73641675A>C , CM000685.1:g.73641675A>C GRCh37
NC_000023.9:g.73558400A>C NCBI36
NG_011641.1:g.5591A>C
NG_011641.2:g.5591A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.203A>C MANE Select ENSP00000465734.1:p.Glu68Ala
ENST00000587091.5:c.203A>C ENSP00000465734.1:p.Glu68Ala
NM_006517.4:c.203A>C NP_006508.2:p.Glu68Ala
XM_005262294.1:c.203A>C XP_005262351.1:p.Glu68Ala
XM_011531015.1:c.203A>C XP_011529317.1:p.Glu68Ala
NM_006517.5:c.203A>C MANE Select NP_006508.2:p.Glu68Ala