Canonical Allele Identifier: CA1446240

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230243334C>T , CM000663.2:g.230243334C>T	GRCh38
NC_000001.10:g.230379080C>T , CM000663.1:g.230379080C>T	GRCh37
NC_000001.9:g.228445703C>T	NCBI36
NG_011854.1:g.181125C>T
NG_011854.2:g.190546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366672.5:c.636C>T MANE Select	ENSP00000355632.4:p.Ala212=
ENST00000366672.4:c.636C>T	ENSP00000355632.4:p.Ala212=
ENST00000494106.1:n.599C>T
NM_001291866.1:c.522C>T	NP_001278795.1:p.Ala174=
NM_004481.4:c.636C>T	NP_004472.1:p.Ala212=
XM_011544154.1:c.564C>T	XP_011542456.1:p.Ala188=
XM_011544155.1:c.435C>T	XP_011542457.1:p.Ala145=
XM_017000963.2:c.636C>T	XP_016856452.1:p.Ala212=
XM_017000964.2:c.543C>T	XP_016856453.1:p.Ala181=
XM_017000965.1:c.522C>T	XP_016856454.1:p.Ala174=
XM_017000966.1:c.435C>T	XP_016856455.1:p.Ala145=
NM_004481.5:c.636C>T MANE Select	NP_004472.1:p.Ala212=
NM_001291866.2:c.522C>T	NP_001278795.1:p.Ala174=