Canonical Allele Identifier: CA345183272

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230243321G>A , CM000663.2:g.230243321G>A	GRCh38
NC_000001.10:g.230379067G>A , CM000663.1:g.230379067G>A	GRCh37
NC_000001.9:g.228445690G>A	NCBI36
NG_011854.1:g.181112G>A
NG_011854.2:g.190533G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.623G>A MANE Select	NP_004472.1:p.Arg208Gln
ENST00000366672.5:c.623G>A MANE Select	ENSP00000355632.4:p.Arg208Gln
NM_001291866.1:c.509G>A	NP_001278795.1:p.Arg170Gln
NM_001291866.2:c.509G>A	NP_001278795.1:p.Arg170Gln
NM_004481.4:c.623G>A	NP_004472.1:p.Arg208Gln
ENST00000366672.4:c.623G>A	ENSP00000355632.4:p.Arg208Gln
ENST00000494106.1:n.586G>A
XM_011544154.1:c.551G>A	XP_011542456.1:p.Arg184Gln
XM_011544155.1:c.422G>A	XP_011542457.1:p.Arg141Gln
XM_017000963.2:c.623G>A	XP_016856452.1:p.Arg208Gln
XM_017000964.2:c.530G>A	XP_016856453.1:p.Arg177Gln
XM_017000965.1:c.509G>A	XP_016856454.1:p.Arg170Gln
XM_017000966.1:c.422G>A	XP_016856455.1:p.Arg141Gln