Canonical Allele Identifier: CA10647764

Gene: SLC6A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55703779C>T , CM000678.2:g.55703779C>T	GRCh38
NC_000016.9:g.55737691C>T , CM000678.1:g.55737691C>T	GRCh37
NC_000016.8:g.54295192C>T	NCBI36
NG_016969.1:g.53150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1831-1437C>T	ENSP00000219833.8:n.1831-1437C>T
ENST00000568943.6:c.*1433C>T MANE Select	ENSP00000457473.1:n.*1433C>T
ENST00000574918.2:c.*1433C>T	ENSP00000460214.2:n.*1433C>T
ENST00000682050.1:c.*1986C>T	ENSP00000508367.1:n.*1986C>T
ENST00000219833.12:c.1831-1437C>T	ENSP00000219833.8:n.1831-1437C>T
ENST00000379906.6:c.*1433C>T	ENSP00000369237.2:n.*1433C>T
ENST00000561820.5:c.1759-1437C>T	ENSP00000454439.1:n.1759-1437C>T
ENST00000567238.1:c.*1433C>T	ENSP00000457375.1:n.*1433C>T
ENST00000574918.1:c.106-1437C>T
NM_001043.3:c.*1433C>T	NP_001034.1:n.*1433C>T
NM_001172501.1:c.*1433C>T	NP_001165972.1:n.*1433C>T
NM_001172502.1:c.*1433C>T	NP_001165973.1:n.*1433C>T
NM_001172504.1:c.1831-1437C>T	NP_001165975.1:n.1831-1437C>T
XM_006721263.2:c.1831-1437C>T	XP_006721326.1:n.1831-1437C>T
XM_011523295.1:c.1831-1437C>T	XP_011521597.1:n.1831-1437C>T
XM_011523296.1:c.1696-1437C>T	XP_011521598.1:n.1696-1437C>T
XM_011523297.1:c.*1433C>T	XP_011521599.1:n.*1433C>T
XM_011523299.1:c.*1433C>T	XP_011521601.1:n.*1433C>T
XM_011523300.1:c.*1433C>T	XP_011521602.1:n.*1433C>T
XM_011523295.2:c.1831-1437C>T	XP_011521597.1:n.1831-1437C>T
XM_011523296.2:c.1696-1437C>T	XP_011521598.1:n.1696-1437C>T
XM_011523297.3:c.*1433C>T	XP_011521599.1:n.*1433C>T
XM_011523299.2:c.*1433C>T	XP_011521601.1:n.*1433C>T
XM_011523300.2:c.*1433C>T	XP_011521602.1:n.*1433C>T
XR_933403.3:n.3479C>T
NM_001172501.2:c.*1433C>T	NP_001165972.1:n.*1433C>T
NM_001172501.3:c.*1433C>T MANE Select	NP_001165972.1:n.*1433C>T