Canonical Allele Identifier: CA1446258

Gene: GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230243437C>T , CM000663.2:g.230243437C>T	GRCh38
NC_000001.10:g.230379183C>T , CM000663.1:g.230379183C>T	GRCh37
NC_000001.9:g.228445806C>T	NCBI36
NG_011854.1:g.181228C>T
NG_011854.2:g.190649C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004481.5:c.729+10C>T MANE Select	NP_004472.1:n.729+10C>T
ENST00000366672.5:c.729+10C>T MANE Select	ENSP00000355632.4:n.729+10C>T
NM_001291866.1:c.615+10C>T	NP_001278795.1:n.615+10C>T
NM_001291866.2:c.615+10C>T	NP_001278795.1:n.615+10C>T
NM_004481.4:c.729+10C>T	NP_004472.1:n.729+10C>T
ENST00000366672.4:c.729+10C>T	ENSP00000355632.4:n.729+10C>T
XM_011544154.1:c.657+10C>T	XP_011542456.1:n.657+10C>T
XM_011544155.1:c.528+10C>T	XP_011542457.1:n.528+10C>T
XM_017000963.2:c.729+10C>T	XP_016856452.1:n.729+10C>T
XM_017000964.2:c.636+10C>T	XP_016856453.1:n.636+10C>T
XM_017000965.1:c.615+10C>T	XP_016856454.1:n.615+10C>T
XM_017000966.1:c.528+10C>T	XP_016856455.1:n.528+10C>T