Canonical Allele Identifier: CA8646613
Community Standard Title: NM_022167.4(XYLT2):c.1941+67G>A
Gene: XYLT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50357319G>A , CM000679.2:g.50357319G>A GRCh38
NC_000017.10:g.48434680G>A , CM000679.1:g.48434680G>A GRCh37
NC_000017.9:g.45789679G>A NCBI36
NG_012175.1:g.16288G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.1941+67G>A MANE Select NP_071450.2:n.1941+67G>A
ENST00000017003.7:c.1941+67G>A MANE Select ENSP00000017003.2:n.1941+67G>A
NM_022167.3:c.1941+67G>A NP_071450.2:n.1941+67G>A
NR_110010.1:n.1854+546G>A
NR_110010.2:n.1760+546G>A
ENST00000017003.6:c.1941+67G>A ENSP00000017003.2:n.1941+67G>A
ENST00000376550.7:c.1745+546G>A ENSP00000365733.3:n.1745+546G>A
ENST00000507602.5:c.1941+67G>A ENSP00000426501.1:n.1941+67G>A
ENST00000511654.1:c.476+67G>A ENSP00000428350.1:n.476+67G>A
ENST00000574840.1:c.154G>A ENSP00000460517.1:n.154G>A
XM_005257572.3:c.1845+67G>A XP_005257629.1:n.1845+67G>A
XM_005257572.4:c.1845+67G>A XP_005257629.1:n.1845+67G>A
XM_011525114.1:c.1350+67G>A XP_011523416.1:n.1350+67G>A