Canonical Allele Identifier: CA2646919064
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109274585-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109274585A>C , CM000663.2:g.109274585A>C GRCh38
NC_000001.10:g.109817207A>C , CM000663.1:g.109817207A>C GRCh37
NC_000001.9:g.109618730A>C NCBI36
NG_052669.1:g.29881A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000271332.4:c.*536A>C MANE Select ENSP00000271332.3:n.*536A>C
ENST00000271332.3:c.*536A>C ENSP00000271332.3:n.*536A>C
ENST00000498157.1:n.2658A>C
NM_001408.2:c.*536A>C NP_001399.1:n.*536A>C
XM_005270580.3:c.*403A>C XP_005270637.1:n.*403A>C
NM_001408.3:c.*536A>C MANE Select NP_001399.1:n.*536A>C
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