Canonical Allele Identifier: CA341128
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11642
ClinVar RCV Id: RCV000012408
dbSNP Id: rs113994166

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74531546del , CM000685.2:g.74531546del GRCh38
NC_000023.10:g.73751381del , CM000685.1:g.73751381del GRCh37
NC_000023.9:g.73668106del NCBI36
NG_011641.1:g.115297del
NG_011641.2:g.115297del

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.1613del MANE Select ENSP00000465734.1:p.Pro538GlnfsTer?
ENST00000636771.1:c.1522del
ENST00000587091.5:c.1613del ENSP00000465734.1:p.Pro538GlnfsTer?
ENST00000590447.1:c.824del
NM_006517.4:c.1613del NP_006508.2:p.Pro538GlnfsTer?
XM_005262294.1:c.*136del XP_005262351.1:n.*136del
NM_006517.5:c.1613del MANE Select NP_006508.2:p.Pro538GlnfsTer?