Canonical Allele Identifier: CA2646915937
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264050-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264050A>C , CM000663.2:g.109264050A>C GRCh38
NC_000001.10:g.109806672A>C , CM000663.1:g.109806672A>C GRCh37
NC_000001.9:g.109608195A>C NCBI36
NG_052669.1:g.19346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-28A>C MANE Select ENSP00000271332.3:n.5002-28A>C
ENST00000271332.3:c.5002-28A>C ENSP00000271332.3:n.5002-28A>C
NM_001408.2:c.5002-28A>C NP_001399.1:n.5002-28A>C
XM_005270580.3:c.5002-28A>C XP_005270637.1:n.5002-28A>C
NM_001408.3:c.5002-28A>C MANE Select NP_001399.1:n.5002-28A>C
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