Canonical Allele Identifier: CA1212142672
Gene: COLGALT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.184033740A>C , CM000663.2:g.184033740A>C GRCh38
NC_000001.10:g.184002874A>C , CM000663.1:g.184002874A>C GRCh37
NC_000001.9:g.182269497A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361927.9:c.263+3355T>G MANE Select ENSP00000354960.4:n.263+3355T>G
ENST00000649786.1:c.263+3355T>G ENSP00000497601.1:n.263+3355T>G
ENST00000361927.8:c.263+3355T>G ENSP00000354960.4:n.263+3355T>G
NM_001303420.1:c.263+3355T>G NP_001290349.1:n.263+3355T>G
NM_001303421.1:c.-98+3841T>G NP_001290350.1:n.-98+3841T>G
NM_015101.3:c.263+3355T>G NP_055916.1:n.263+3355T>G
XM_011509332.1:c.263+3355T>G XP_011507634.1:n.263+3355T>G
XM_011509333.1:c.263+3355T>G XP_011507635.1:n.263+3355T>G
XM_011509334.1:c.-98+3841T>G XP_011507636.1:n.-98+3841T>G
XM_011509335.1:c.-98+2400T>G XP_011507637.1:n.-98+2400T>G
XM_011509336.1:c.-98+17855T>G XP_011507638.1:n.-98+17855T>G
XR_241075.1:n.383+3355T>G
XM_011509332.2:c.263+3355T>G XP_011507634.1:n.263+3355T>G
XM_011509334.2:c.-98+3841T>G XP_011507636.1:n.-98+3841T>G
XM_011509335.2:c.-98+2400T>G XP_011507637.1:n.-98+2400T>G
XM_011509336.2:c.-98+17855T>G XP_011507638.1:n.-98+17855T>G
XM_017000750.1:c.-98+2400T>G XP_016856239.1:n.-98+2400T>G
XR_001737056.1:n.383+3355T>G
NM_015101.4:c.263+3355T>G MANE Select NP_055916.1:n.263+3355T>G
NM_001303420.2:c.263+3355T>G NP_001290349.1:n.263+3355T>G
NM_001303421.2:c.-98+3841T>G NP_001290350.1:n.-98+3841T>G