Canonical Allele Identifier: CA115601

Gene: XYLT2

Linked Data

• ClinVar Variation Id: 2533
• ClinVar RCV Id: RCV000002642 ; RCV000989952 ; RCV001642196 ; RCV002276528
• dbSNP Id: rs6504649
• ExAC: 17:48437456 C / G
• gnomAD v2: 17-48437456-C-G
• gnomAD v3: 17-50360095-C-G
• gnomAD v4: 17-50360095-C-G
• MyVariant Identifiers: chr17:g.48437456C>G (hg19) ; chr17:g.50360095C>G (hg38)
• PubMed: PMID:16571645

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000017003.7:c.2402C>G MANE Select	ENSP00000017003.2:p.Thr801Arg
ENST00000017003.6:c.2402C>G	ENSP00000017003.2:p.Thr801Arg
ENST00000376550.7:c.*286C>G	ENSP00000365733.3:n.*286C>G
ENST00000507602.5:c.1941+2843C>G	ENSP00000426501.1:n.1941+2843C>G
ENST00000571021.1:n.1118C>G
NM_022167.3:c.2402C>G	NP_071450.2:p.Thr801Arg
NR_110010.1:n.2315C>G
XM_005257572.3:c.2306C>G	XP_005257629.1:p.Thr769Arg
XM_011525114.1:c.1811C>G	XP_011523416.1:p.Thr604Arg
XM_005257572.4:c.2306C>G	XP_005257629.1:p.Thr769Arg
NM_022167.4:c.2402C>G MANE Select	NP_071450.2:p.Thr801Arg
NR_110010.2:n.2221C>G