Canonical Allele Identifier: CA413655935
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1928303162
gnomAD v3: X-74421813-C-A
gnomAD v4: X-74421813-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421813C>A , CM000685.2:g.74421813C>A GRCh38
NC_000023.10:g.73641648C>A , CM000685.1:g.73641648C>A GRCh37
NC_000023.9:g.73558373C>A NCBI36
NG_011641.1:g.5564C>A
NG_011641.2:g.5564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.176C>A MANE Select ENSP00000465734.1:p.Pro59Gln
ENST00000587091.5:c.176C>A ENSP00000465734.1:p.Pro59Gln
NM_006517.4:c.176C>A NP_006508.2:p.Pro59Gln
XM_005262294.1:c.176C>A XP_005262351.1:p.Pro59Gln
XM_011531015.1:c.176C>A XP_011529317.1:p.Pro59Gln
NM_006517.5:c.176C>A MANE Select NP_006508.2:p.Pro59Gln