Canonical Allele Identifier: CA2223789864
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656316_55656336delinsAGCTGGGGAGGGGGTCGGCAC , CM000678.2:g.55656316_55656336delinsAGCTGGGGAGGGGGTCGGCAC GRCh38
NC_000016.9:g.55690228_55690248delinsAGCTGGGGAGGGGGTCGGCAC , CM000678.1:g.55690228_55690248delinsAGCTGGGGAGGGGGTCGGCAC GRCh37
NC_000016.8:g.54247729_54247749delinsAGCTGGGGAGGGGGTCGGCAC NCBI36
NG_016969.1:g.5687_5707delinsAGCTGGGGAGGGGGTCGGCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000219833.13:c.-379_-359delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000219833.8:n.-379_-359delinsAGCTGG...
ENST00000568943.6:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC MANE Select ENSP00000457473.1:n.-52+147_-52+167delins...
ENST00000574918.2:c.-88_-68delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000460214.2:n.-88_-68delinsAGCTGGGG...
ENST00000682050.1:c.-88_-68delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000508367.1:n.-88_-68delinsAGCTGGGG...
ENST00000414754.7:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000394956.3:n.-52+147_-52+167delins...
ENST00000568529.6:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000456377.2:n.-52+147_-52+167delins...
ENST00000568655.5:c.-88_-68delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000454603.1:n.-88_-68delinsAGCTGGGG...
ENST00000568943.5:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC ENSP00000457473.1:n.-52+147_-52+167delins...
NM_001172501.1:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC NP_001165972.1:n.-52+147_-52+167delinsAGC...
XM_006721263.2:c.-88_-68delinsAGCTGGGGAGGGGGTCGGCAC XP_006721326.1:n.-88_-68delinsAGCTGGGGAGG...
XM_011523295.1:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521597.1:n.-52+147_-52+167delinsAGC...
XM_011523296.1:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521598.1:n.-52+147_-52+167delinsAGC...
XM_011523297.1:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521599.1:n.-52+147_-52+167delinsAGC...
XM_011523298.1:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521600.1:n.-52+147_-52+167delinsAGC...
XR_933403.1:n.566+147_566+167delinsAGCTGGGGAGGGGGTCGGCAC
XM_011523295.2:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521597.1:n.-52+147_-52+167delinsAGC...
XM_011523296.2:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521598.1:n.-52+147_-52+167delinsAGC...
XM_011523297.3:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521599.1:n.-52+147_-52+167delinsAGC...
XM_011523298.2:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC XP_011521600.1:n.-52+147_-52+167delinsAGC...
XR_933403.3:n.242+147_242+167delinsAGCTGGGGAGGGGGTCGGCAC
NM_001172501.2:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC NP_001165972.1:n.-52+147_-52+167delinsAGC...
NM_001172501.3:c.-52+147_-52+167delinsAGCTGGGGAGGGGGTCGGCAC MANE Select NP_001165972.1:n.-52+147_-52+167delinsAGC...