Canonical Allele Identifier: CA517464364
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1446343412
gnomAD v2: X-73641670-G-A
gnomAD v4: X-74421835-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421835G>A , CM000685.2:g.74421835G>A GRCh38
NC_000023.10:g.73641670G>A , CM000685.1:g.73641670G>A GRCh37
NC_000023.9:g.73558395G>A NCBI36
NG_011641.1:g.5586G>A
NG_011641.2:g.5586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.198G>A MANE Select ENSP00000465734.1:p.Glu66=
ENST00000587091.5:c.198G>A ENSP00000465734.1:p.Glu66=
NM_006517.4:c.198G>A NP_006508.2:p.Glu66=
XM_005262294.1:c.198G>A XP_005262351.1:p.Glu66=
XM_011531015.1:c.198G>A XP_011529317.1:p.Glu66=
NM_006517.5:c.198G>A MANE Select NP_006508.2:p.Glu66=