Canonical Allele Identifier: CA552612282
Gene: UGT2B10 HGNC NCBI

Linked Data

gnomAD v2: 4-69682461-AT-A
gnomAD v4: 4-68816743-AT-A
MyVariant Identifiers: chr4:g.69682462del (hg19) chr4:g.68816744del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68816750del , CM000666.2:g.68816750del GRCh38
NC_000004.11:g.69682468del , CM000666.1:g.69682468del GRCh37
NC_000004.10:g.69717057del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265403.12:c.718+13del MANE Select ENSP00000265403.7:n.718+13del
ENST00000265403.11:c.718+13del ENSP00000265403.7:n.718+13del
ENST00000458688.2:c.466+265del ENSP00000413420.2:n.466+265del
NM_001075.5:c.718+13del NP_001066.1:n.718+13del
NM_001144767.2:c.466+265del NP_001138239.1:n.466+265del
NM_001290091.1:c.-27+578del NP_001277020.1:n.-27+578del
XM_017008585.2:c.718+13del XP_016864074.1:n.718+13del
NM_001075.6:c.718+13del MANE Select NP_001066.1:n.718+13del
NM_001144767.3:c.466+265del NP_001138239.1:n.466+265del
NM_001290091.2:c.-27+578del NP_001277020.1:n.-27+578del
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