Canonical Allele Identifier: CA345183391

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230243346A>C , CM000663.2:g.230243346A>C	GRCh38
NC_000001.10:g.230379092A>C , CM000663.1:g.230379092A>C	GRCh37
NC_000001.9:g.228445715A>C	NCBI36
NG_011854.1:g.181137A>C
NG_011854.2:g.190558A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.648A>C MANE Select	NP_004472.1:p.Gln216His
ENST00000366672.5:c.648A>C MANE Select	ENSP00000355632.4:p.Gln216His
NM_001291866.1:c.534A>C	NP_001278795.1:p.Gln178His
NM_001291866.2:c.534A>C	NP_001278795.1:p.Gln178His
NM_004481.4:c.648A>C	NP_004472.1:p.Gln216His
ENST00000366672.4:c.648A>C	ENSP00000355632.4:p.Gln216His
ENST00000494106.1:n.611A>C
XM_011544154.1:c.576A>C	XP_011542456.1:p.Gln192His
XM_011544155.1:c.447A>C	XP_011542457.1:p.Gln149His
XM_017000963.2:c.648A>C	XP_016856452.1:p.Gln216His
XM_017000964.2:c.555A>C	XP_016856453.1:p.Gln185His
XM_017000965.1:c.534A>C	XP_016856454.1:p.Gln178His
XM_017000966.1:c.447A>C	XP_016856455.1:p.Gln149His