Canonical Allele Identifier: CA2646919032
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109274578-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109274578C>A , CM000663.2:g.109274578C>A GRCh38
NC_000001.10:g.109817200C>A , CM000663.1:g.109817200C>A GRCh37
NC_000001.9:g.109618723C>A NCBI36
NG_052669.1:g.29874C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000271332.4:c.*529C>A MANE Select ENSP00000271332.3:n.*529C>A
ENST00000271332.3:c.*529C>A ENSP00000271332.3:n.*529C>A
ENST00000498157.1:n.2651C>A
NM_001408.2:c.*529C>A NP_001399.1:n.*529C>A
XM_005270580.3:c.*396C>A XP_005270637.1:n.*396C>A
NM_001408.3:c.*529C>A MANE Select NP_001399.1:n.*529C>A
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