Canonical Allele Identifier: CA977567333
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656468G>C , CM000678.2:g.55656468G>C GRCh38
NC_000016.9:g.55690380G>C , CM000678.1:g.55690380G>C GRCh37
NC_000016.8:g.54247881G>C NCBI36
NG_016969.1:g.5839G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000219833.13:c.-227G>C ENSP00000219833.8:n.-227G>C
ENST00000568943.6:c.-51-176G>C MANE Select ENSP00000457473.1:n.-51-176G>C
ENST00000574918.2:c.-52+116G>C ENSP00000460214.2:n.-52+116G>C
ENST00000682050.1:c.-52+116G>C ENSP00000508367.1:n.-52+116G>C
ENST00000379906.6:c.-227G>C ENSP00000369237.2:n.-227G>C
ENST00000414754.7:c.-51-176G>C ENSP00000394956.3:n.-51-176G>C
ENST00000568529.6:c.-51-176G>C ENSP00000456377.2:n.-51-176G>C
ENST00000568655.5:c.-52+116G>C ENSP00000454603.1:n.-52+116G>C
ENST00000568943.5:c.-51-176G>C ENSP00000457473.1:n.-51-176G>C
NM_001043.3:c.-227G>C NP_001034.1:n.-227G>C
NM_001172501.1:c.-51-176G>C NP_001165972.1:n.-51-176G>C
XM_006721263.2:c.-52+116G>C XP_006721326.1:n.-52+116G>C
XM_011523295.1:c.-51-176G>C XP_011521597.1:n.-51-176G>C
XM_011523296.1:c.-51-176G>C XP_011521598.1:n.-51-176G>C
XM_011523297.1:c.-51-176G>C XP_011521599.1:n.-51-176G>C
XM_011523298.1:c.-51-176G>C XP_011521600.1:n.-51-176G>C
XR_933403.1:n.567-176G>C
XM_011523295.2:c.-51-176G>C XP_011521597.1:n.-51-176G>C
XM_011523296.2:c.-51-176G>C XP_011521598.1:n.-51-176G>C
XM_011523297.3:c.-51-176G>C XP_011521599.1:n.-51-176G>C
XM_011523298.2:c.-51-176G>C XP_011521600.1:n.-51-176G>C
XR_933403.3:n.243-176G>C
NM_001172501.2:c.-51-176G>C NP_001165972.1:n.-51-176G>C
NM_001172501.3:c.-51-176G>C MANE Select NP_001165972.1:n.-51-176G>C