Canonical Allele Identifier: CA8646760

Gene: XYLT2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50360280C>T , CM000679.2:g.50360280C>T	GRCh38
NC_000017.10:g.48437641C>T , CM000679.1:g.48437641C>T	GRCh37
NC_000017.9:g.45792640C>T	NCBI36
NG_012175.1:g.19249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022167.4:c.2587C>T MANE Select	NP_071450.2:p.Arg863Ter
ENST00000017003.7:c.2587C>T MANE Select	ENSP00000017003.2:p.Arg863Ter
NM_022167.3:c.2587C>T	NP_071450.2:p.Arg863Ter
NR_110010.1:n.2500C>T
NR_110010.2:n.2406C>T
ENST00000017003.6:c.2587C>T	ENSP00000017003.2:p.Arg863Ter
ENST00000376550.7:c.*471C>T	ENSP00000365733.3:n.*471C>T
ENST00000507602.5:c.1942-2699C>T	ENSP00000426501.1:n.1942-2699C>T
ENST00000571021.1:n.1303C>T
XM_005257572.3:c.2491C>T	XP_005257629.1:p.Arg831Ter
XM_005257572.4:c.2491C>T	XP_005257629.1:p.Arg831Ter
XM_011525114.1:c.1996C>T	XP_011523416.1:p.Arg666Ter