Canonical Allele Identifier: CA552194407

Gene: UGT2B10

Linked Data

• dbSNP Id: rs1191633245
• gnomAD v2: 4-69683002-A-G
• gnomAD v3: 4-68817284-A-G
• gnomAD v4: 4-68817284-A-G
• MyVariant Identifiers: chr4:g.69683002A>G (hg19) ; chr4:g.68817284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68817284A>G , CM000666.2:g.68817284A>G	GRCh38
NC_000004.11:g.69683002A>G , CM000666.1:g.69683002A>G	GRCh37
NC_000004.10:g.69717591A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265403.12:c.718+547A>G MANE Select	ENSP00000265403.7:n.718+547A>G
ENST00000265403.11:c.718+547A>G	ENSP00000265403.7:n.718+547A>G
ENST00000458688.2:c.467-745A>G	ENSP00000413420.2:n.467-745A>G
NM_001075.5:c.718+547A>G	NP_001066.1:n.718+547A>G
NM_001144767.2:c.467-745A>G	NP_001138239.1:n.467-745A>G
NM_001290091.1:c.-26-745A>G	NP_001277020.1:n.-26-745A>G
XM_017008585.2:c.718+547A>G	XP_016864074.1:n.718+547A>G
NM_001075.6:c.718+547A>G MANE Select	NP_001066.1:n.718+547A>G
NM_001144767.3:c.467-745A>G	NP_001138239.1:n.467-745A>G
NM_001290091.2:c.-26-745A>G	NP_001277020.1:n.-26-745A>G