Canonical Allele Identifier: CA1446112
Community Standard Title: NM_004481.5(GALNT2):c.375-4G>A
Gene: GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230236010G>A , CM000663.2:g.230236010G>A GRCh38
NC_000001.10:g.230371756G>A , CM000663.1:g.230371756G>A GRCh37
NC_000001.9:g.228438379G>A NCBI36
NG_011854.1:g.173801G>A
NG_011854.2:g.183222G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004481.5:c.375-4G>A MANE Select NP_004472.1:n.375-4G>A
ENST00000366672.5:c.375-4G>A MANE Select ENSP00000355632.4:n.375-4G>A
NM_001291866.1:c.261-4G>A NP_001278795.1:n.261-4G>A
NM_001291866.2:c.261-4G>A NP_001278795.1:n.261-4G>A
NM_004481.4:c.375-4G>A NP_004472.1:n.375-4G>A
ENST00000366672.4:c.375-4G>A ENSP00000355632.4:n.375-4G>A
ENST00000494106.1:n.338-4G>A
XM_011544154.1:c.303-4G>A XP_011542456.1:n.303-4G>A
XM_011544155.1:c.174-4G>A XP_011542457.1:n.174-4G>A
XM_017000963.2:c.375-4G>A XP_016856452.1:n.375-4G>A
XM_017000964.2:c.282-4G>A XP_016856453.1:n.282-4G>A
XM_017000965.1:c.261-4G>A XP_016856454.1:n.261-4G>A
XM_017000966.1:c.174-4G>A XP_016856455.1:n.174-4G>A