Canonical Allele Identifier: CA400198710
Community Standard Title: NM_022167.4(XYLT2):c.660G>T (p.Glu220Asp)
Gene: XYLT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50354439G>T , CM000679.2:g.50354439G>T GRCh38
NC_000017.10:g.48431800G>T , CM000679.1:g.48431800G>T GRCh37
NC_000017.9:g.45786799G>T NCBI36
NG_012175.1:g.13408G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.660G>T MANE Select NP_071450.2:p.Glu220Asp
ENST00000017003.7:c.660G>T MANE Select ENSP00000017003.2:p.Glu220Asp
NM_022167.3:c.660G>T NP_071450.2:p.Glu220Asp
NR_110010.1:n.769G>T
NR_110010.2:n.675G>T
ENST00000017003.6:c.660G>T ENSP00000017003.2:p.Glu220Asp
ENST00000376550.7:c.660G>T ENSP00000365733.3:p.Glu220Asp
ENST00000507602.5:c.660G>T ENSP00000426501.1:p.Glu220Asp
XM_005257572.3:c.564G>T XP_005257629.1:p.Glu188Asp
XM_005257572.4:c.564G>T XP_005257629.1:p.Glu188Asp
XM_011525114.1:c.69G>T XP_011523416.1:p.Glu23Asp