Canonical Allele Identifier: CA395944551
Gene: SLC6A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55696240T>G , CM000678.2:g.55696240T>G GRCh38
NC_000016.9:g.55730152T>G , CM000678.1:g.55730152T>G GRCh37
NC_000016.8:g.54287653T>G NCBI36
NG_016969.1:g.45611T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.1163T>G ENSP00000219833.8:p.Phe388Cys
ENST00000568943.6:c.1163T>G MANE Select ENSP00000457473.1:p.Phe388Cys
ENST00000574918.2:c.1028T>G ENSP00000460214.2:p.Phe343Cys
ENST00000682050.1:c.1012+838T>G ENSP00000508367.1:n.1012+838T>G
ENST00000219833.12:c.1163T>G ENSP00000219833.8:p.Phe388Cys
ENST00000379906.6:c.1163T>G ENSP00000369237.2:p.Phe388Cys
ENST00000414754.7:c.1163T>G ENSP00000394956.3:p.Phe388Cys
ENST00000561820.5:c.1163T>G ENSP00000454439.1:p.Phe388Cys
ENST00000566163.5:c.1028T>G ENSP00000456210.1:p.Phe343Cys
ENST00000567238.1:c.848T>G ENSP00000457375.1:p.Phe283Cys
ENST00000568943.5:c.1163T>G ENSP00000457473.1:p.Phe388Cys
NM_001043.3:c.1163T>G NP_001034.1:p.Phe388Cys
NM_001172501.1:c.1163T>G NP_001165972.1:p.Phe388Cys
NM_001172502.1:c.848T>G NP_001165973.1:p.Phe283Cys
NM_001172504.1:c.1163T>G NP_001165975.1:p.Phe388Cys
XM_006721263.2:c.1163T>G XP_006721326.1:p.Phe388Cys
XM_011523295.1:c.1163T>G XP_011521597.1:p.Phe388Cys
XM_011523296.1:c.1028T>G XP_011521598.1:p.Phe343Cys
XM_011523297.1:c.1028T>G XP_011521599.1:p.Phe343Cys
XM_011523298.1:c.1147+838T>G XP_011521600.1:n.1147+838T>G
XM_011523299.1:c.440T>G XP_011521601.1:p.Phe147Cys
XM_011523300.1:c.440T>G XP_011521602.1:p.Phe147Cys
XR_933403.1:n.1780T>G
XM_011523295.2:c.1163T>G XP_011521597.1:p.Phe388Cys
XM_011523296.2:c.1028T>G XP_011521598.1:p.Phe343Cys
XM_011523297.3:c.1028T>G XP_011521599.1:p.Phe343Cys
XM_011523298.2:c.1147+838T>G XP_011521600.1:n.1147+838T>G
XM_011523299.2:c.440T>G XP_011521601.1:p.Phe147Cys
XM_011523300.2:c.440T>G XP_011521602.1:p.Phe147Cys
XR_933403.3:n.1456T>G
NM_001172501.2:c.1163T>G NP_001165972.1:p.Phe388Cys
NM_001172501.3:c.1163T>G MANE Select NP_001165972.1:p.Phe388Cys