Canonical Allele Identifier: CA721928044

Gene: SLC6A2

Linked Data

• dbSNP Id: rs1311351481
• gnomAD v3: 16-55656170-G-A
• gnomAD v4: 16-55656170-G-A
• MyVariant Identifiers: chr16:g.55690082G>A (hg19) ; chr16:g.55656170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656170G>A , CM000678.2:g.55656170G>A	GRCh38
NC_000016.9:g.55690082G>A , CM000678.1:g.55690082G>A	GRCh37
NC_000016.8:g.54247583G>A	NCBI36
NG_016969.1:g.5541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568943.6:c.-52+1G>A MANE Select	ENSP00000457473.1:n.-52+1G>A
ENST00000414754.7:c.-52+1G>A	ENSP00000394956.3:n.-52+1G>A
ENST00000568529.6:c.-52+1G>A	ENSP00000456377.2:n.-52+1G>A
ENST00000568943.5:c.-52+1G>A	ENSP00000457473.1:n.-52+1G>A
NM_001172501.1:c.-52+1G>A	NP_001165972.1:n.-52+1G>A
XM_011523295.1:c.-52+1G>A	XP_011521597.1:n.-52+1G>A
XM_011523296.1:c.-52+1G>A	XP_011521598.1:n.-52+1G>A
XM_011523297.1:c.-52+1G>A	XP_011521599.1:n.-52+1G>A
XM_011523298.1:c.-52+1G>A	XP_011521600.1:n.-52+1G>A
XR_933403.1:n.566+1G>A
XM_011523295.2:c.-52+1G>A	XP_011521597.1:n.-52+1G>A
XM_011523296.2:c.-52+1G>A	XP_011521598.1:n.-52+1G>A
XM_011523297.3:c.-52+1G>A	XP_011521599.1:n.-52+1G>A
XM_011523298.2:c.-52+1G>A	XP_011521600.1:n.-52+1G>A
XR_933403.3:n.242+1G>A
NM_001172501.2:c.-52+1G>A	NP_001165972.1:n.-52+1G>A
NM_001172501.3:c.-52+1G>A MANE Select	NP_001165972.1:n.-52+1G>A