Canonical Allele Identifier: CA357085059
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1233030957
gnomAD v3: 4-68669992-C-A
gnomAD v4: 4-68669992-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68669992C>A , CM000666.2:g.68669992C>A GRCh38
NC_000004.11:g.69535710C>A , CM000666.1:g.69535710C>A GRCh37
NC_000004.10:g.69218305C>A NCBI36
NG_052676.1:g.5785G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.627G>T MANE Select ENSP00000341045.5:p.Met209Ile
ENST00000338206.5:c.627G>T ENSP00000341045.5:p.Met209Ile
ENST00000616841.4:c.627G>T ENSP00000482004.1:p.Met209Ile
NM_001076.3:c.627G>T NP_001067.2:p.Met209Ile
NM_001076.4:c.627G>T MANE Select NP_001067.2:p.Met209Ile