Canonical Allele Identifier: CA413656349
Gene: SLC16A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422008T>A , CM000685.2:g.74422008T>A GRCh38
NC_000023.10:g.73641843T>A , CM000685.1:g.73641843T>A GRCh37
NC_000023.9:g.73558568T>A NCBI36
NG_011641.1:g.5759T>A
NG_011641.2:g.5759T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.371T>A MANE Select ENSP00000465734.1:p.Leu124His
ENST00000636771.1:c.117T>A
ENST00000587091.5:c.371T>A ENSP00000465734.1:p.Leu124His
NM_006517.4:c.371T>A NP_006508.2:p.Leu124His
XM_005262294.1:c.371T>A XP_005262351.1:p.Leu124His
XM_011531015.1:c.371T>A XP_011529317.1:p.Leu124His
NM_006517.5:c.371T>A MANE Select NP_006508.2:p.Leu124His