Canonical Allele Identifier: CA8646234
Community Standard Title: NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp)
Gene: XYLT2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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