Canonical Allele Identifier: CA2223810660
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55702000C>A , CM000678.2:g.55702000C>A GRCh38
NC_000016.9:g.55735912C>A , CM000678.1:g.55735912C>A GRCh37
NC_000016.8:g.54293413C>A NCBI36
NG_016969.1:g.51371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.1830+66C>A ENSP00000219833.8:n.1830+66C>A
ENST00000568943.6:c.1830+66C>A MANE Select ENSP00000457473.1:n.1830+66C>A
ENST00000574918.2:c.1695+66C>A ENSP00000460214.2:n.1695+66C>A
ENST00000682050.1:c.*529+66C>A ENSP00000508367.1:n.*529+66C>A
ENST00000219833.12:c.1830+66C>A ENSP00000219833.8:n.1830+66C>A
ENST00000379906.6:c.1830+66C>A ENSP00000369237.2:n.1830+66C>A
ENST00000414754.7:c.1662+66C>A ENSP00000394956.3:n.1662+66C>A
ENST00000561820.5:c.1758+1694C>A ENSP00000454439.1:n.1758+1694C>A
ENST00000566163.5:c.1695+66C>A ENSP00000456210.1:n.1695+66C>A
ENST00000567238.1:c.1515+66C>A ENSP00000457375.1:n.1515+66C>A
ENST00000568943.5:c.1830+66C>A ENSP00000457473.1:n.1830+66C>A
ENST00000574918.1:c.105+66C>A
NM_001043.3:c.1830+66C>A NP_001034.1:n.1830+66C>A
NM_001172501.1:c.1830+66C>A NP_001165972.1:n.1830+66C>A
NM_001172502.1:c.1515+66C>A NP_001165973.1:n.1515+66C>A
NM_001172504.1:c.1830+66C>A NP_001165975.1:n.1830+66C>A
XM_006721263.2:c.1830+66C>A XP_006721326.1:n.1830+66C>A
XM_011523295.1:c.1830+66C>A XP_011521597.1:n.1830+66C>A
XM_011523296.1:c.1695+66C>A XP_011521598.1:n.1695+66C>A
XM_011523297.1:c.1695+66C>A XP_011521599.1:n.1695+66C>A
XM_011523299.1:c.1107+66C>A XP_011521601.1:n.1107+66C>A
XM_011523300.1:c.1107+66C>A XP_011521602.1:n.1107+66C>A
XR_933403.1:n.2346+66C>A
XM_011523295.2:c.1830+66C>A XP_011521597.1:n.1830+66C>A
XM_011523296.2:c.1695+66C>A XP_011521598.1:n.1695+66C>A
XM_011523297.3:c.1695+66C>A XP_011521599.1:n.1695+66C>A
XM_011523299.2:c.1107+66C>A XP_011521601.1:n.1107+66C>A
XM_011523300.2:c.1107+66C>A XP_011521602.1:n.1107+66C>A
XR_933403.3:n.2022+66C>A
NM_001172501.2:c.1830+66C>A NP_001165972.1:n.1830+66C>A
NM_001172501.3:c.1830+66C>A MANE Select NP_001165972.1:n.1830+66C>A