Canonical Allele Identifier: CA2942871
Gene: UGT2B10 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.68816218G>A
GRCh37 chr4:g.69681936G>A
Revel Score:
ENST00000265403 (MANE Select) 0.013
ENST00000458688 0.013
gnomAD v2:
4:69681936 G / A
gnomAD v4:
chr4-68816218-G-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
dbSNP:
61750900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68816218G>A , CM000666.2:g.68816218G>A GRCh38
NC_000004.11:g.69681936G>A , CM000666.1:g.69681936G>A GRCh37
NC_000004.10:g.69716525G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265403.12:c.199G>A MANE Select ENSP00000265403.7:p.Asp67Asn
ENST00000265403.11:c.199G>A ENSP00000265403.7:p.Asp67Asn
ENST00000458688.2:c.199G>A ENSP00000413420.2:p.Asp67Asn
NM_001075.5:c.199G>A NP_001066.1:p.Asp67Asn
NM_001144767.2:c.199G>A NP_001138239.1:p.Asp67Asn
NM_001290091.1:c.-27+46G>A NP_001277020.1:n.-27+46G>A
XM_017008585.2:c.199G>A XP_016864074.1:p.Asp67Asn
NM_001075.6:c.199G>A MANE Select NP_001066.1:p.Asp67Asn
NM_001144767.3:c.199G>A NP_001138239.1:p.Asp67Asn
NM_001290091.2:c.-27+46G>A NP_001277020.1:n.-27+46G>A
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