Canonical Allele Identifier: CA8646742

Gene: XYLT2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50360156C>T , CM000679.2:g.50360156C>T	GRCh38
NC_000017.10:g.48437517C>T , CM000679.1:g.48437517C>T	GRCh37
NC_000017.9:g.45792516C>T	NCBI36
NG_012175.1:g.19125C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022167.4:c.2463C>T MANE Select	NP_071450.2:p.Ser821=
ENST00000017003.7:c.2463C>T MANE Select	ENSP00000017003.2:p.Ser821=
NM_022167.3:c.2463C>T	NP_071450.2:p.Ser821=
NR_110010.1:n.2376C>T
NR_110010.2:n.2282C>T
ENST00000017003.6:c.2463C>T	ENSP00000017003.2:p.Ser821=
ENST00000376550.7:c.*347C>T	ENSP00000365733.3:n.*347C>T
ENST00000507602.5:c.1942-2823C>T	ENSP00000426501.1:n.1942-2823C>T
ENST00000571021.1:n.1179C>T
XM_005257572.3:c.2367C>T	XP_005257629.1:p.Ser789=
XM_005257572.4:c.2367C>T	XP_005257629.1:p.Ser789=
XM_011525114.1:c.1872C>T	XP_011523416.1:p.Ser624=