Canonical Allele Identifier: CA2633287590

Gene: SLC6A2

Linked Data

• gnomAD v4: 16-55656389-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656392del , CM000678.2:g.55656392del	GRCh38
NC_000016.9:g.55690304del , CM000678.1:g.55690304del	GRCh37
NC_000016.8:g.54247805del	NCBI36
NG_016969.1:g.5763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.-303del	ENSP00000219833.8:n.-303del
ENST00000568943.6:c.-52+223del MANE Select	ENSP00000457473.1:n.-52+223del
ENST00000574918.2:c.-52+40del	ENSP00000460214.2:n.-52+40del
ENST00000682050.1:c.-52+40del	ENSP00000508367.1:n.-52+40del
ENST00000414754.7:c.-52+223del	ENSP00000394956.3:n.-52+223del
ENST00000568529.6:c.-52+223del	ENSP00000456377.2:n.-52+223del
ENST00000568655.5:c.-52+40del	ENSP00000454603.1:n.-52+40del
ENST00000568943.5:c.-52+223del	ENSP00000457473.1:n.-52+223del
NM_001172501.1:c.-52+223del	NP_001165972.1:n.-52+223del
XM_006721263.2:c.-52+40del	XP_006721326.1:n.-52+40del
XM_011523295.1:c.-52+223del	XP_011521597.1:n.-52+223del
XM_011523296.1:c.-52+223del	XP_011521598.1:n.-52+223del
XM_011523297.1:c.-52+223del	XP_011521599.1:n.-52+223del
XM_011523298.1:c.-52+223del	XP_011521600.1:n.-52+223del
XR_933403.1:n.566+223del
XM_011523295.2:c.-52+223del	XP_011521597.1:n.-52+223del
XM_011523296.2:c.-52+223del	XP_011521598.1:n.-52+223del
XM_011523297.3:c.-52+223del	XP_011521599.1:n.-52+223del
XM_011523298.2:c.-52+223del	XP_011521600.1:n.-52+223del
XR_933403.3:n.242+223del
NM_001172501.2:c.-52+223del	NP_001165972.1:n.-52+223del
NM_001172501.3:c.-52+223del MANE Select	NP_001165972.1:n.-52+223del