Canonical Allele Identifier: CA2646916355
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264414-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264414C>A , CM000663.2:g.109264414C>A GRCh38
NC_000001.10:g.109807036C>A , CM000663.1:g.109807036C>A GRCh37
NC_000001.9:g.109608559C>A NCBI36
NG_052669.1:g.19710C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5290-40C>A MANE Select ENSP00000271332.3:n.5290-40C>A
ENST00000271332.3:c.5290-40C>A ENSP00000271332.3:n.5290-40C>A
NM_001408.2:c.5290-40C>A NP_001399.1:n.5290-40C>A
XM_005270580.3:c.5290-40C>A XP_005270637.1:n.5290-40C>A
NM_001408.3:c.5290-40C>A MANE Select NP_001399.1:n.5290-40C>A
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