Canonical Allele Identifier: CA10454384
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs772492116
gnomAD v2: X-73641690-G-C
gnomAD v4: X-74421855-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421855G>C , CM000685.2:g.74421855G>C GRCh38
NC_000023.10:g.73641690G>C , CM000685.1:g.73641690G>C GRCh37
NC_000023.9:g.73558415G>C NCBI36
NG_011641.1:g.5606G>C
NG_011641.2:g.5606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.218G>C MANE Select ENSP00000465734.1:p.Arg73Pro
ENST00000587091.5:c.218G>C ENSP00000465734.1:p.Arg73Pro
NM_006517.4:c.218G>C NP_006508.2:p.Arg73Pro
XM_005262294.1:c.218G>C XP_005262351.1:p.Arg73Pro
XM_011531015.1:c.218G>C XP_011529317.1:p.Arg73Pro
NM_006517.5:c.218G>C MANE Select NP_006508.2:p.Arg73Pro