Canonical Allele Identifier: CA2807126305
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656329dup , CM000678.2:g.55656329dup GRCh38
NC_000016.9:g.55690241dup , CM000678.1:g.55690241dup GRCh37
NC_000016.8:g.54247742dup NCBI36
NG_016969.1:g.5700dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.-366dup ENSP00000219833.8:n.-366dup
ENST00000568943.6:c.-52+160dup MANE Select ENSP00000457473.1:n.-52+160dup
ENST00000574918.2:c.-75dup ENSP00000460214.2:n.-75dup
ENST00000682050.1:c.-75dup ENSP00000508367.1:n.-75dup
ENST00000414754.7:c.-52+160dup ENSP00000394956.3:n.-52+160dup
ENST00000568529.6:c.-52+160dup ENSP00000456377.2:n.-52+160dup
ENST00000568655.5:c.-75dup ENSP00000454603.1:n.-75dup
ENST00000568943.5:c.-52+160dup ENSP00000457473.1:n.-52+160dup
NM_001172501.1:c.-52+160dup NP_001165972.1:n.-52+160dup
XM_006721263.2:c.-75dup XP_006721326.1:n.-75dup
XM_011523295.1:c.-52+160dup XP_011521597.1:n.-52+160dup
XM_011523296.1:c.-52+160dup XP_011521598.1:n.-52+160dup
XM_011523297.1:c.-52+160dup XP_011521599.1:n.-52+160dup
XM_011523298.1:c.-52+160dup XP_011521600.1:n.-52+160dup
XR_933403.1:n.566+160dup
XM_011523295.2:c.-52+160dup XP_011521597.1:n.-52+160dup
XM_011523296.2:c.-52+160dup XP_011521598.1:n.-52+160dup
XM_011523297.3:c.-52+160dup XP_011521599.1:n.-52+160dup
XM_011523298.2:c.-52+160dup XP_011521600.1:n.-52+160dup
XR_933403.3:n.242+160dup
NM_001172501.2:c.-52+160dup NP_001165972.1:n.-52+160dup
NM_001172501.3:c.-52+160dup MANE Select NP_001165972.1:n.-52+160dup