Canonical Allele Identifier: CA345184941

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230249231C>T , CM000663.2:g.230249231C>T	GRCh38
NC_000001.10:g.230384977C>T , CM000663.1:g.230384977C>T	GRCh37
NC_000001.9:g.228451600C>T	NCBI36
NG_011854.1:g.187022C>T
NG_011854.2:g.196443C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.865C>T MANE Select	NP_004472.1:p.Gln289Ter
ENST00000366672.5:c.865C>T MANE Select	ENSP00000355632.4:p.Gln289Ter
NM_001291866.1:c.751C>T	NP_001278795.1:p.Gln251Ter
NM_001291866.2:c.751C>T	NP_001278795.1:p.Gln251Ter
NM_004481.4:c.865C>T	NP_004472.1:p.Gln289Ter
ENST00000366672.4:c.865C>T	ENSP00000355632.4:p.Gln289Ter
XM_011544154.1:c.793C>T	XP_011542456.1:p.Gln265Ter
XM_011544155.1:c.664C>T	XP_011542457.1:p.Gln222Ter
XM_017000963.2:c.865C>T	XP_016856452.1:p.Gln289Ter
XM_017000964.2:c.772C>T	XP_016856453.1:p.Gln258Ter
XM_017000965.1:c.751C>T	XP_016856454.1:p.Gln251Ter
XM_017000966.1:c.664C>T	XP_016856455.1:p.Gln222Ter