Canonical Allele Identifier: CA8646734

Gene: XYLT2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50360095C>T , CM000679.2:g.50360095C>T	GRCh38
NC_000017.10:g.48437456C>T , CM000679.1:g.48437456C>T	GRCh37
NC_000017.9:g.45792455C>T	NCBI36
NG_012175.1:g.19064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000017003.7:c.2402C>T MANE Select	ENSP00000017003.2:p.Thr801Ile
ENST00000017003.6:c.2402C>T	ENSP00000017003.2:p.Thr801Ile
ENST00000376550.7:c.*286C>T	ENSP00000365733.3:n.*286C>T
ENST00000507602.5:c.1941+2843C>T	ENSP00000426501.1:n.1941+2843C>T
ENST00000571021.1:n.1118C>T
NM_022167.3:c.2402C>T	NP_071450.2:p.Thr801Ile
NR_110010.1:n.2315C>T
XM_005257572.3:c.2306C>T	XP_005257629.1:p.Thr769Ile
XM_011525114.1:c.1811C>T	XP_011523416.1:p.Thr604Ile
XM_005257572.4:c.2306C>T	XP_005257629.1:p.Thr769Ile
NM_022167.4:c.2402C>T MANE Select	NP_071450.2:p.Thr801Ile
NR_110010.2:n.2221C>T