Canonical Allele Identifier: CA2744995090
Gene: CELSR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264462_109264463insTG , CM000663.2:g.109264462_109264463insTG GRCh38
NC_000001.10:g.109807084_109807085insTG , CM000663.1:g.109807084_109807085insTG GRCh37
NC_000001.9:g.109608607_109608608insTG NCBI36
NG_052669.1:g.19758_19759insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5298_5299insTG MANE Select ENSP00000271332.3:p.Val1767TrpfsTer2
ENST00000271332.3:c.5298_5299insTG ENSP00000271332.3:p.Val1767TrpfsTer2
NM_001408.2:c.5298_5299insTG NP_001399.1:p.Val1767TrpfsTer2
XM_005270580.3:c.5298_5299insTG XP_005270637.1:p.Val1767TrpfsTer2
NM_001408.3:c.5298_5299insTG MANE Select NP_001399.1:p.Val1767TrpfsTer2
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