Canonical Allele Identifier: CA525625808
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1557733023
gnomAD v2: 1-109806649-AC-A
gnomAD v4: 1-109264027-AC-A
MyVariant Identifiers: chr1:g.109806650del (hg19) chr1:g.109264028del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264028del , CM000663.2:g.109264028del GRCh38
NC_000001.10:g.109806650del , CM000663.1:g.109806650del GRCh37
NC_000001.9:g.109608173del NCBI36
NG_052669.1:g.19324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-50del MANE Select ENSP00000271332.3:n.5002-50del
ENST00000271332.3:c.5002-50del ENSP00000271332.3:n.5002-50del
NM_001408.2:c.5002-50del NP_001399.1:n.5002-50del
XM_005270580.3:c.5002-50del XP_005270637.1:n.5002-50del
NM_001408.3:c.5002-50del MANE Select NP_001399.1:n.5002-50del
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