Canonical Allele Identifier: CA8646638

Gene: XYLT2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50358263G>A , CM000679.2:g.50358263G>A	GRCh38
NC_000017.10:g.48435624G>A , CM000679.1:g.48435624G>A	GRCh37
NC_000017.9:g.45790623G>A	NCBI36
NG_012175.1:g.17232G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022167.4:c.1998G>A MANE Select	NP_071450.2:p.Leu666=
ENST00000017003.7:c.1998G>A MANE Select	ENSP00000017003.2:p.Leu666=
NM_022167.3:c.1998G>A	NP_071450.2:p.Leu666=
NR_110010.1:n.1911G>A
NR_110010.2:n.1817G>A
ENST00000017003.6:c.1998G>A	ENSP00000017003.2:p.Leu666=
ENST00000376550.7:c.1802G>A	ENSP00000365733.3:p.Trp601Ter
ENST00000507602.5:c.1941+1011G>A	ENSP00000426501.1:n.1941+1011G>A
ENST00000511654.1:c.533G>A	ENSP00000428350.1:n.533G>A
XM_005257572.3:c.1902G>A	XP_005257629.1:p.Leu634=
XM_005257572.4:c.1902G>A	XP_005257629.1:p.Leu634=
XM_011525114.1:c.1407G>A	XP_011523416.1:p.Leu469=