Canonical Allele Identifier: CA658799803

Gene: SLC16A2

Linked Data

• ClinVar Variation Id: 523037
• ClinVar RCV Id: RCV000626242
• dbSNP Id: rs1555989846
• MyVariant Identifiers: chrX:g.73745729_73745732del (hg19) ; chrX:g.74525894_74525897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525897_74525900del , CM000685.2:g.74525897_74525900del	GRCh38
NC_000023.10:g.73745732_73745735del , CM000685.1:g.73745732_73745735del	GRCh37
NC_000023.9:g.73662457_73662460del	NCBI36
NG_011641.1:g.109648_109651del
NG_011641.2:g.109648_109651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000587091.6:c.1170+4_1170+7del MANE Select	ENSP00000465734.1:n.1170+4_1170+7del
ENST00000636771.1:c.1079+4_1079+7del
ENST00000587091.5:c.1170+4_1170+7del	ENSP00000465734.1:n.1170+4_1170+7del
ENST00000590447.1:c.610+4_610+7del
NM_006517.4:c.1170+4_1170+7del	NP_006508.2:n.1170+4_1170+7del
XM_005262294.1:c.1170+4_1170+7del	XP_005262351.1:n.1170+4_1170+7del
NM_006517.5:c.1170+4_1170+7del MANE Select	NP_006508.2:n.1170+4_1170+7del