Canonical Allele Identifier: CA10454396
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs780117662
gnomAD v2: X-73641777-T-G
gnomAD v4: X-74421942-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421942T>G , CM000685.2:g.74421942T>G GRCh38
NC_000023.10:g.73641777T>G , CM000685.1:g.73641777T>G GRCh37
NC_000023.9:g.73558502T>G NCBI36
NG_011641.1:g.5693T>G
NG_011641.2:g.5693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.305T>G MANE Select ENSP00000465734.1:p.Val102Gly
ENST00000636771.1:c.51T>G
ENST00000587091.5:c.305T>G ENSP00000465734.1:p.Val102Gly
NM_006517.4:c.305T>G NP_006508.2:p.Val102Gly
XM_005262294.1:c.305T>G XP_005262351.1:p.Val102Gly
XM_011531015.1:c.305T>G XP_011529317.1:p.Val102Gly
NM_006517.5:c.305T>G MANE Select NP_006508.2:p.Val102Gly