Canonical Allele Identifier: CA413656416
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1454189635
gnomAD v2: X-73641872-G-A
gnomAD v4: X-74422037-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422037G>A , CM000685.2:g.74422037G>A GRCh38
NC_000023.10:g.73641872G>A , CM000685.1:g.73641872G>A GRCh37
NC_000023.9:g.73558597G>A NCBI36
NG_011641.1:g.5788G>A
NG_011641.2:g.5788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.400G>A MANE Select ENSP00000465734.1:p.Glu134Lys
ENST00000636771.1:c.146G>A
ENST00000587091.5:c.400G>A ENSP00000465734.1:p.Glu134Lys
NM_006517.4:c.400G>A NP_006508.2:p.Glu134Lys
XM_005262294.1:c.400G>A XP_005262351.1:p.Glu134Lys
XM_011531015.1:c.400G>A XP_011529317.1:p.Glu134Lys
NM_006517.5:c.400G>A MANE Select NP_006508.2:p.Glu134Lys