Canonical Allele Identifier: CA8646734
Gene: XYLT2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50360095C>T
GRCh37 chr17:g.48437456C>T
Revel Score:
ENST00000017003 (MANE Select) 0.073
gnomAD v2:
17:48437456 C / T
gnomAD v3:
17:50360095 C / T
gnomAD v4:
chr17-50360095-C-T
Joint Max Group AF 0.00005434 (AMR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00007282 (AMR)
ClinVar RCV:
RCV002785761
ClinVar Variation:
1985871
dbSNP:
6504649
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000017003.7:c.2402C>T MANE Select ENSP00000017003.2:p.Thr801Ile
ENST00000017003.6:c.2402C>T ENSP00000017003.2:p.Thr801Ile
ENST00000376550.7:c.*286C>T ENSP00000365733.3:n.*286C>T
ENST00000507602.5:c.1941+2843C>T ENSP00000426501.1:n.1941+2843C>T
ENST00000571021.1:n.1118C>T
NM_022167.3:c.2402C>T NP_071450.2:p.Thr801Ile
NR_110010.1:n.2315C>T
XM_005257572.3:c.2306C>T XP_005257629.1:p.Thr769Ile
XM_011525114.1:c.1811C>T XP_011523416.1:p.Thr604Ile
XM_005257572.4:c.2306C>T XP_005257629.1:p.Thr769Ile
NM_022167.4:c.2402C>T MANE Select NP_071450.2:p.Thr801Ile
NR_110010.2:n.2221C>T
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