Canonical Allele Identifier: CA2223789822
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656250_55656251delinsGT , CM000678.2:g.55656250_55656251delinsGT GRCh38
NC_000016.9:g.55690162_55690163delinsGT , CM000678.1:g.55690162_55690163delinsGT GRCh37
NC_000016.8:g.54247663_54247664delinsGT NCBI36
NG_016969.1:g.5621_5622delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000568943.6:c.-52+81_-52+82delinsGT MANE Select ENSP00000457473.1:n.-52+81_-52+82delinsGT...
ENST00000414754.7:c.-52+81_-52+82delinsGT ENSP00000394956.3:n.-52+81_-52+82delinsGT...
ENST00000568529.6:c.-52+81_-52+82delinsGT ENSP00000456377.2:n.-52+81_-52+82delinsGT...
ENST00000568943.5:c.-52+81_-52+82delinsGT ENSP00000457473.1:n.-52+81_-52+82delinsGT...
NM_001172501.1:c.-52+81_-52+82delinsGT NP_001165972.1:n.-52+81_-52+82delinsGT
XM_011523295.1:c.-52+81_-52+82delinsGT XP_011521597.1:n.-52+81_-52+82delinsGT
XM_011523296.1:c.-52+81_-52+82delinsGT XP_011521598.1:n.-52+81_-52+82delinsGT
XM_011523297.1:c.-52+81_-52+82delinsGT XP_011521599.1:n.-52+81_-52+82delinsGT
XM_011523298.1:c.-52+81_-52+82delinsGT XP_011521600.1:n.-52+81_-52+82delinsGT
XR_933403.1:n.566+81_566+82delinsGT
XM_011523295.2:c.-52+81_-52+82delinsGT XP_011521597.1:n.-52+81_-52+82delinsGT
XM_011523296.2:c.-52+81_-52+82delinsGT XP_011521598.1:n.-52+81_-52+82delinsGT
XM_011523297.3:c.-52+81_-52+82delinsGT XP_011521599.1:n.-52+81_-52+82delinsGT
XM_011523298.2:c.-52+81_-52+82delinsGT XP_011521600.1:n.-52+81_-52+82delinsGT
XR_933403.3:n.242+81_242+82delinsGT
NM_001172501.2:c.-52+81_-52+82delinsGT NP_001165972.1:n.-52+81_-52+82delinsGT
NM_001172501.3:c.-52+81_-52+82delinsGT MANE Select NP_001165972.1:n.-52+81_-52+82delinsGT