Canonical Allele Identifier: CA8646122
Gene: XYLT2 HGNC NCBI
ClinVar RCV:
RCV004485771
ClinVar Variation:
3191381
dbSNP:
369894723
gnomAD v2:
17:48431129 G / A
gnomAD v3:
17:50353768 G / A
gnomAD v4:
chr17-50353768-G-A
Joint Max Group AF 0.00005367 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.00006054 (AFR)
MyVariant.info:
GRCh38 chr17:g.50353768G>A
GRCh37 chr17:g.48431129G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50353768G>A , CM000679.2:g.50353768G>A GRCh38
NC_000017.10:g.48431129G>A , CM000679.1:g.48431129G>A GRCh37
NC_000017.9:g.45786128G>A NCBI36
NG_012175.1:g.12737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000017003.7:c.274G>A MANE Select ENSP00000017003.2:p.Val92Met
ENST00000017003.6:c.274G>A ENSP00000017003.2:p.Val92Met
ENST00000376550.7:c.274G>A ENSP00000365733.3:p.Val92Met
ENST00000507602.5:c.274G>A ENSP00000426501.1:p.Val92Met
NM_022167.3:c.274G>A NP_071450.2:p.Val92Met
NR_110010.1:n.383G>A
XM_005257572.3:c.178G>A XP_005257629.1:p.Val60Met
XM_011525114.1:c.-318G>A XP_011523416.1:n.-318G>A
XM_005257572.4:c.178G>A XP_005257629.1:p.Val60Met
NM_022167.4:c.274G>A MANE Select NP_071450.2:p.Val92Met
NR_110010.2:n.289G>A
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