Canonical Allele Identifier: CA322146

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213751
• ClinVar RCV Id: RCV000197685 ; RCV001781572
• dbSNP Id: rs761721442
• ExAC: 20:45355627 T / A
• gnomAD v2: 20-45355627-T-A
• gnomAD v3: 20-46726988-T-A
• gnomAD v4: 20-46726988-T-A
• MyVariant Identifiers: chr20:g.45355627T>A (hg19) ; chr20:g.46726988T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726988T>A , CM000682.2:g.46726988T>A	GRCh38
NC_000020.10:g.45355627T>A , CM000682.1:g.45355627T>A	GRCh37
NC_000020.9:g.44789034T>A	NCBI36
NG_016284.1:g.22349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1411+2T>A MANE Select	ENSP00000352216.2:n.1411+2T>A
ENST00000359271.3:c.1411+2T>A	ENSP00000352216.2:n.1411+2T>A
NM_030777.3:c.1411+2T>A	NP_110404.1:n.1411+2T>A
XM_011529060.1:c.1474+2T>A	XP_011527362.1:n.1474+2T>A
XM_011529061.1:c.1420+2T>A	XP_011527363.1:n.1420+2T>A
XM_011529062.1:c.1523+2T>A	XP_011527364.1:n.1523+2T>A
XM_011529063.1:c.1474+2T>A	XP_011527365.1:n.1474+2T>A
XM_011529064.1:c.1523+2T>A	XP_011527366.1:n.1523+2T>A
XM_011529065.1:c.1474+2T>A	XP_011527367.1:n.1474+2T>A
XR_936641.1:n.1659+2T>A
XM_011529060.2:c.1474+2T>A	XP_011527362.1:n.1474+2T>A
XM_011529061.2:c.1420+2T>A	XP_011527363.1:n.1420+2T>A
XM_011529062.2:c.1523+2T>A	XP_011527364.1:n.1523+2T>A
XM_011529063.2:c.1474+2T>A	XP_011527365.1:n.1474+2T>A
XM_011529064.2:c.1523+2T>A	XP_011527366.1:n.1523+2T>A
XM_011529065.2:c.1474+2T>A	XP_011527367.1:n.1474+2T>A
XM_017028087.2:c.1411+2T>A	XP_016883576.1:n.1411+2T>A
XR_936641.2:n.1646+2T>A
NM_030777.4:c.1411+2T>A MANE Select	NP_110404.1:n.1411+2T>A