Canonical Allele Identifier: CA345181793

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230236716C>T , CM000663.2:g.230236716C>T	GRCh38
NC_000001.10:g.230372462C>T , CM000663.1:g.230372462C>T	GRCh37
NC_000001.9:g.228439085C>T	NCBI36
NG_011854.1:g.174507C>T
NG_011854.2:g.183928C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.598C>T MANE Select	NP_004472.1:p.Arg200Ter
ENST00000366672.5:c.598C>T MANE Select	ENSP00000355632.4:p.Arg200Ter
NM_001291866.1:c.484C>T	NP_001278795.1:p.Arg162Ter
NM_001291866.2:c.484C>T	NP_001278795.1:p.Arg162Ter
NM_004481.4:c.598C>T	NP_004472.1:p.Arg200Ter
ENST00000366672.4:c.598C>T	ENSP00000355632.4:p.Arg200Ter
ENST00000494106.1:n.561C>T
XM_011544154.1:c.526C>T	XP_011542456.1:p.Arg176Ter
XM_011544155.1:c.397C>T	XP_011542457.1:p.Arg133Ter
XM_017000963.2:c.598C>T	XP_016856452.1:p.Arg200Ter
XM_017000964.2:c.505C>T	XP_016856453.1:p.Arg169Ter
XM_017000965.1:c.484C>T	XP_016856454.1:p.Arg162Ter
XM_017000966.1:c.397C>T	XP_016856455.1:p.Arg133Ter