Canonical Allele Identifier: CA10638040

Gene: SLC6A2

Linked Data

• ClinVar Variation Id: 319819
• ClinVar RCV Id: RCV000338319
• dbSNP Id: rs35571499
• gnomAD v2: 16-55736651-A-ACC
• gnomAD v3: 16-55702739-A-ACC
• gnomAD v4: 16-55702739-A-ACC
• MyVariant Identifiers: chr16:g.55736654_55736655dupCC (hg19) ; chr16:g.55736651_55736652insCC (hg19) ; chr16:g.55702742_55702743dupCC (hg38) ; chr16:g.55702739_55702740insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55702742_55702743dup , CM000678.2:g.55702742_55702743dup	GRCh38
NC_000016.9:g.55736654_55736655dup , CM000678.1:g.55736654_55736655dup	GRCh37
NC_000016.8:g.54294155_54294156dup	NCBI36
NG_016969.1:g.52113_52114dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1830+808_1830+809dup	ENSP00000219833.8:n.1830+808_1830+809dup
ENST00000568943.6:c.*396_*397dup MANE Select	ENSP00000457473.1:n.*396_*397dup
ENST00000574918.2:c.*396_*397dup	ENSP00000460214.2:n.*396_*397dup
ENST00000682050.1:c.*949_*950dup	ENSP00000508367.1:n.*949_*950dup
ENST00000219833.12:c.1830+808_1830+809dup	ENSP00000219833.8:n.1830+808_1830+809dup
ENST00000379906.6:c.*396_*397dup	ENSP00000369237.2:n.*396_*397dup
ENST00000414754.7:c.*396_*397dup	ENSP00000394956.3:n.*396_*397dup
ENST00000561820.5:c.1758+2436_1758+2437dup	ENSP00000454439.1:n.1758+2436_1758+2437dup
ENST00000567238.1:c.*396_*397dup	ENSP00000457375.1:n.*396_*397dup
ENST00000574918.1:c.105+808_105+809dup
NM_001043.3:c.*396_*397dup	NP_001034.1:n.*396_*397dup
NM_001172501.1:c.*396_*397dup	NP_001165972.1:n.*396_*397dup
NM_001172502.1:c.*396_*397dup	NP_001165973.1:n.*396_*397dup
NM_001172504.1:c.1830+808_1830+809dup	NP_001165975.1:n.1830+808_1830+809dup
XM_006721263.2:c.1830+808_1830+809dup	XP_006721326.1:n.1830+808_1830+809dup
XM_011523295.1:c.1830+808_1830+809dup	XP_011521597.1:n.1830+808_1830+809dup
XM_011523296.1:c.1695+808_1695+809dup	XP_011521598.1:n.1695+808_1695+809dup
XM_011523297.1:c.*396_*397dup	XP_011521599.1:n.*396_*397dup
XM_011523299.1:c.*396_*397dup	XP_011521601.1:n.*396_*397dup
XM_011523300.1:c.*396_*397dup	XP_011521602.1:n.*396_*397dup
XM_011523295.2:c.1830+808_1830+809dup	XP_011521597.1:n.1830+808_1830+809dup
XM_011523296.2:c.1695+808_1695+809dup	XP_011521598.1:n.1695+808_1695+809dup
XM_011523297.3:c.*396_*397dup	XP_011521599.1:n.*396_*397dup
XM_011523299.2:c.*396_*397dup	XP_011521601.1:n.*396_*397dup
XM_011523300.2:c.*396_*397dup	XP_011521602.1:n.*396_*397dup
XR_933403.3:n.2442_2443dup
NM_001172501.2:c.*396_*397dup	NP_001165972.1:n.*396_*397dup
NM_001172501.3:c.*396_*397dup MANE Select	NP_001165972.1:n.*396_*397dup