Canonical Allele Identifier: CA552194398

Gene: UGT2B10

Linked Data

• dbSNP Id: rs1445841462
• gnomAD v2: 4-69682947-T-C
• gnomAD v3: 4-68817229-T-C
• gnomAD v4: 4-68817229-T-C
• MyVariant Identifiers: chr4:g.69682947T>C (hg19) ; chr4:g.69682947_69682974delinsCCTATATCTCAGATGCAAAAATCAATAA (hg19) ; chr4:g.68817229T>C (hg38) ; chr4:g.68817229_68817256delinsCCTATATCTCAGATGCAAAAATCAATAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68817229T>C , CM000666.2:g.68817229T>C	GRCh38
NC_000004.11:g.69682947T>C , CM000666.1:g.69682947T>C	GRCh37
NC_000004.10:g.69717536T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265403.12:c.718+492T>C MANE Select	ENSP00000265403.7:n.718+492T>C
ENST00000265403.11:c.718+492T>C	ENSP00000265403.7:n.718+492T>C
ENST00000458688.2:c.466+744T>C	ENSP00000413420.2:n.466+744T>C
NM_001075.5:c.718+492T>C	NP_001066.1:n.718+492T>C
NM_001144767.2:c.466+744T>C	NP_001138239.1:n.466+744T>C
NM_001290091.1:c.-26-800T>C	NP_001277020.1:n.-26-800T>C
XM_017008585.2:c.718+492T>C	XP_016864074.1:n.718+492T>C
NM_001075.6:c.718+492T>C MANE Select	NP_001066.1:n.718+492T>C
NM_001144767.3:c.466+744T>C	NP_001138239.1:n.466+744T>C
NM_001290091.2:c.-26-800T>C	NP_001277020.1:n.-26-800T>C