Canonical Allele Identifier: CA11830874
Gene: UGT2B15 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.68646936G>A
GRCh37 chr4:g.69512654G>A
gnomAD v2:
4:69512654 G / A
gnomAD v3:
4:68646936 G / A
gnomAD v4:
chr4-68646936-G-A
Joint Max Group AF 0.65536206 (NFE)
Genomes Max Group AF 0.64227388 (NFE)
Exomes Max Group AF 0.65631138 (NFE)
dbSNP:
3100
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68646936G>A , CM000666.2:g.68646936G>A GRCh38
NC_000004.11:g.69512654G>A , CM000666.1:g.69512654G>A GRCh37
NC_000004.10:g.69195249G>A NCBI36
NG_052676.1:g.28841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.*168C>T MANE Select ENSP00000341045.5:n.*168C>T
ENST00000338206.5:c.*168C>T ENSP00000341045.5:n.*168C>T
ENST00000616841.4:c.1732+29C>T ENSP00000482004.1:n.1732+29C>T
NM_001076.3:c.*168C>T NP_001067.2:n.*168C>T
NM_001076.4:c.*168C>T MANE Select NP_001067.2:n.*168C>T
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