Canonical Allele Identifier: CA345183300

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230243327G>C , CM000663.2:g.230243327G>C	GRCh38
NC_000001.10:g.230379073G>C , CM000663.1:g.230379073G>C	GRCh37
NC_000001.9:g.228445696G>C	NCBI36
NG_011854.1:g.181118G>C
NG_011854.2:g.190539G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.629G>C MANE Select	NP_004472.1:p.Arg210Pro
ENST00000366672.5:c.629G>C MANE Select	ENSP00000355632.4:p.Arg210Pro
NM_001291866.1:c.515G>C	NP_001278795.1:p.Arg172Pro
NM_001291866.2:c.515G>C	NP_001278795.1:p.Arg172Pro
NM_004481.4:c.629G>C	NP_004472.1:p.Arg210Pro
ENST00000366672.4:c.629G>C	ENSP00000355632.4:p.Arg210Pro
ENST00000494106.1:n.592G>C
XM_011544154.1:c.557G>C	XP_011542456.1:p.Arg186Pro
XM_011544155.1:c.428G>C	XP_011542457.1:p.Arg143Pro
XM_017000963.2:c.629G>C	XP_016856452.1:p.Arg210Pro
XM_017000964.2:c.536G>C	XP_016856453.1:p.Arg179Pro
XM_017000965.1:c.515G>C	XP_016856454.1:p.Arg172Pro
XM_017000966.1:c.428G>C	XP_016856455.1:p.Arg143Pro