Canonical Allele Identifier: CA423865991

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230178286A>C , CM000663.2:g.230178286A>C	GRCh38
NC_000001.10:g.230314032A>C , CM000663.1:g.230314032A>C	GRCh37
NC_000001.9:g.228380655A>C	NCBI36
NG_011854.1:g.116077A>C
NG_011854.2:g.125498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366672.5:c.195A>C MANE Select	ENSP00000355632.4:p.Ala65=
ENST00000366672.4:c.195A>C	ENSP00000355632.4:p.Ala65=
ENST00000494106.1:n.158A>C
NM_001291866.1:c.81A>C	NP_001278795.1:p.Ala27=
NM_004481.4:c.195A>C	NP_004472.1:p.Ala65=
XM_011544154.1:c.123A>C	XP_011542456.1:p.Ala41=
XM_011544155.1:c.-7A>C	XP_011542457.1:n.-7A>C
XM_017000963.2:c.195A>C	XP_016856452.1:p.Ala65=
XM_017000964.2:c.102A>C	XP_016856453.1:p.Ala34=
XM_017000965.1:c.81A>C	XP_016856454.1:p.Ala27=
XM_017000966.1:c.-7A>C	XP_016856455.1:n.-7A>C
NM_004481.5:c.195A>C MANE Select	NP_004472.1:p.Ala65=
NM_001291866.2:c.81A>C	NP_001278795.1:p.Ala27=