Canonical Allele Identifier: CA8646415
Community Standard Title: NM_022167.4(XYLT2):c.1305+29G>C
Gene: XYLT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50356026G>C , CM000679.2:g.50356026G>C GRCh38
NC_000017.10:g.48433387G>C , CM000679.1:g.48433387G>C GRCh37
NC_000017.9:g.45788386G>C NCBI36
NG_012175.1:g.14995G>C

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.1305+29G>C MANE Select NP_071450.2:n.1305+29G>C
ENST00000017003.7:c.1305+29G>C MANE Select ENSP00000017003.2:n.1305+29G>C
NM_022167.3:c.1305+29G>C NP_071450.2:n.1305+29G>C
NR_110010.1:n.1414+29G>C
NR_110010.2:n.1320+29G>C
ENST00000017003.6:c.1305+29G>C ENSP00000017003.2:n.1305+29G>C
ENST00000376550.7:c.1305+29G>C ENSP00000365733.3:n.1305+29G>C
ENST00000507602.5:c.1305+29G>C ENSP00000426501.1:n.1305+29G>C
XM_005257572.3:c.1209+29G>C XP_005257629.1:n.1209+29G>C
XM_005257572.4:c.1209+29G>C XP_005257629.1:n.1209+29G>C
XM_011525114.1:c.714+29G>C XP_011523416.1:n.714+29G>C