Canonical Allele Identifier: CA2646916317
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264397-C-CAA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264397_109264398insAA , CM000663.2:g.109264397_109264398insAA GRCh38
NC_000001.10:g.109807019_109807020insAA , CM000663.1:g.109807019_109807020insAA GRCh37
NC_000001.9:g.109608542_109608543insAA NCBI36
NG_052669.1:g.19693_19694insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+32_5289+33insAA MANE Select ENSP00000271332.3:n.5289+32_5289+33insAA
ENST00000271332.3:c.5289+32_5289+33insAA ENSP00000271332.3:n.5289+32_5289+33insAA
NM_001408.2:c.5289+32_5289+33insAA NP_001399.1:n.5289+32_5289+33insAA
XM_005270580.3:c.5289+32_5289+33insAA XP_005270637.1:n.5289+32_5289+33insAA
NM_001408.3:c.5289+32_5289+33insAA MANE Select NP_001399.1:n.5289+32_5289+33insAA
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