Canonical Allele Identifier: CA413658498
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v4: X-74529369-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529369C>A , CM000685.2:g.74529369C>A GRCh38
NC_000023.10:g.73749204C>A , CM000685.1:g.73749204C>A GRCh37
NC_000023.9:g.73665929C>A NCBI36
NG_011641.1:g.113120C>A
NG_011641.2:g.113120C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.1327C>A MANE Select ENSP00000465734.1:p.Gln443Lys
ENST00000636771.1:c.1236C>A
ENST00000587091.5:c.1327C>A ENSP00000465734.1:p.Gln443Lys
ENST00000590447.1:c.611-1964C>A
NM_006517.4:c.1327C>A NP_006508.2:p.Gln443Lys
XM_005262294.1:c.1171-1964C>A XP_005262351.1:n.1171-1964C>A
NM_006517.5:c.1327C>A MANE Select NP_006508.2:p.Gln443Lys