Canonical Allele Identifier: CA2223789923
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656426_55656427delinsGC , CM000678.2:g.55656426_55656427delinsGC GRCh38
NC_000016.9:g.55690338_55690339delinsGC , CM000678.1:g.55690338_55690339delinsGC GRCh37
NC_000016.8:g.54247839_54247840delinsGC NCBI36
NG_016969.1:g.5797_5798delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000219833.13:c.-269_-268delinsGC ENSP00000219833.8:n.-269_-268delinsGC
ENST00000568943.6:c.-51-218_-51-217delinsGC MANE Select ENSP00000457473.1:n.-51-218_-51-217delins...
ENST00000574918.2:c.-52+74_-52+75delinsGC ENSP00000460214.2:n.-52+74_-52+75delinsGC...
ENST00000682050.1:c.-52+74_-52+75delinsGC ENSP00000508367.1:n.-52+74_-52+75delinsGC...
ENST00000414754.7:c.-51-218_-51-217delinsGC ENSP00000394956.3:n.-51-218_-51-217delins...
ENST00000568529.6:c.-51-218_-51-217delinsGC ENSP00000456377.2:n.-51-218_-51-217delins...
ENST00000568655.5:c.-52+74_-52+75delinsGC ENSP00000454603.1:n.-52+74_-52+75delinsGC...
ENST00000568943.5:c.-51-218_-51-217delinsGC ENSP00000457473.1:n.-51-218_-51-217delins...
NM_001172501.1:c.-51-218_-51-217delinsGC NP_001165972.1:n.-51-218_-51-217delinsGC
XM_006721263.2:c.-52+74_-52+75delinsGC XP_006721326.1:n.-52+74_-52+75delinsGC
XM_011523295.1:c.-51-218_-51-217delinsGC XP_011521597.1:n.-51-218_-51-217delinsGC
XM_011523296.1:c.-51-218_-51-217delinsGC XP_011521598.1:n.-51-218_-51-217delinsGC
XM_011523297.1:c.-51-218_-51-217delinsGC XP_011521599.1:n.-51-218_-51-217delinsGC
XM_011523298.1:c.-51-218_-51-217delinsGC XP_011521600.1:n.-51-218_-51-217delinsGC
XR_933403.1:n.567-218_567-217delinsGC
XM_011523295.2:c.-51-218_-51-217delinsGC XP_011521597.1:n.-51-218_-51-217delinsGC
XM_011523296.2:c.-51-218_-51-217delinsGC XP_011521598.1:n.-51-218_-51-217delinsGC
XM_011523297.3:c.-51-218_-51-217delinsGC XP_011521599.1:n.-51-218_-51-217delinsGC
XM_011523298.2:c.-51-218_-51-217delinsGC XP_011521600.1:n.-51-218_-51-217delinsGC
XR_933403.3:n.243-218_243-217delinsGC
NM_001172501.2:c.-51-218_-51-217delinsGC NP_001165972.1:n.-51-218_-51-217delinsGC
NM_001172501.3:c.-51-218_-51-217delinsGC MANE Select NP_001165972.1:n.-51-218_-51-217delinsGC