Canonical Allele Identifier: CA1446127
Gene: GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230236053C>G , CM000663.2:g.230236053C>G GRCh38
NC_000001.10:g.230371799C>G , CM000663.1:g.230371799C>G GRCh37
NC_000001.9:g.228438422C>G NCBI36
NG_011854.1:g.173844C>G
NG_011854.2:g.183265C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366672.5:c.414C>G MANE Select ENSP00000355632.4:p.Thr138=
ENST00000366672.4:c.414C>G ENSP00000355632.4:p.Thr138=
ENST00000494106.1:n.377C>G
NM_001291866.1:c.300C>G NP_001278795.1:p.Thr100=
NM_004481.4:c.414C>G NP_004472.1:p.Thr138=
XM_011544154.1:c.342C>G XP_011542456.1:p.Thr114=
XM_011544155.1:c.213C>G XP_011542457.1:p.Thr71=
XM_017000963.2:c.414C>G XP_016856452.1:p.Thr138=
XM_017000964.2:c.321C>G XP_016856453.1:p.Thr107=
XM_017000965.1:c.300C>G XP_016856454.1:p.Thr100=
XM_017000966.1:c.213C>G XP_016856455.1:p.Thr71=
NM_004481.5:c.414C>G MANE Select NP_004472.1:p.Thr138=
NM_001291866.2:c.300C>G NP_001278795.1:p.Thr100=