Canonical Allele Identifier: CA413658199
Gene: SLC16A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529232T>A , CM000685.2:g.74529232T>A GRCh38
NC_000023.10:g.73749067T>A , CM000685.1:g.73749067T>A GRCh37
NC_000023.9:g.73665792T>A NCBI36
NG_011641.1:g.112983T>A
NG_011641.2:g.112983T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1190T>A MANE Select ENSP00000465734.1:p.Leu397Gln
ENST00000636771.1:c.1099T>A
ENST00000587091.5:c.1190T>A ENSP00000465734.1:p.Leu397Gln
ENST00000590447.1:c.611-2101T>A
NM_006517.4:c.1190T>A NP_006508.2:p.Leu397Gln
XM_005262294.1:c.1171-2101T>A XP_005262351.1:n.1171-2101T>A
NM_006517.5:c.1190T>A MANE Select NP_006508.2:p.Leu397Gln