Canonical Allele Identifier: CA2263994317
Community Standard Title: NM_022167.4(XYLT2):c.2402C= (p.Thr801=)
Gene: XYLT2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.2402C= MANE Select NP_071450.2:p.Thr801=
ENST00000017003.7:c.2402C= MANE Select ENSP00000017003.2:p.Thr801=
NM_022167.3:c.2402C= NP_071450.2:p.Thr801=
NR_110010.1:n.2315C=
NR_110010.2:n.2221C=
ENST00000017003.6:c.2402C= ENSP00000017003.2:p.Thr801=
ENST00000376550.7:c.*286C= ENSP00000365733.3:n.*286C=
ENST00000507602.5:c.1941+2843C= ENSP00000426501.1:n.1941+2843C=
ENST00000571021.1:n.1118C=
XM_005257572.3:c.2306C= XP_005257629.1:p.Thr769=
XM_005257572.4:c.2306C= XP_005257629.1:p.Thr769=
XM_011525114.1:c.1811C= XP_011523416.1:p.Thr604=