Canonical Allele Identifier: CA413655865
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v4: X-74421780-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421780C>A , CM000685.2:g.74421780C>A GRCh38
NC_000023.10:g.73641615C>A , CM000685.1:g.73641615C>A GRCh37
NC_000023.9:g.73558340C>A NCBI36
NG_011641.1:g.5531C>A
NG_011641.2:g.5531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.143C>A MANE Select ENSP00000465734.1:p.Pro48Gln
ENST00000587091.5:c.143C>A ENSP00000465734.1:p.Pro48Gln
NM_006517.4:c.143C>A NP_006508.2:p.Pro48Gln
XM_005262294.1:c.143C>A XP_005262351.1:p.Pro48Gln
XM_011531015.1:c.143C>A XP_011529317.1:p.Pro48Gln
NM_006517.5:c.143C>A MANE Select NP_006508.2:p.Pro48Gln