Canonical Allele Identifier: CA525625669
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1284167193
gnomAD v2: 1-109807002-C-A
gnomAD v4: 1-109264380-C-A
MyVariant Identifiers: chr1:g.109807002C>A (hg19) chr1:g.109264380C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264380C>A , CM000663.2:g.109264380C>A GRCh38
NC_000001.10:g.109807002C>A , CM000663.1:g.109807002C>A GRCh37
NC_000001.9:g.109608525C>A NCBI36
NG_052669.1:g.19676C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+15C>A MANE Select ENSP00000271332.3:n.5289+15C>A
ENST00000271332.3:c.5289+15C>A ENSP00000271332.3:n.5289+15C>A
NM_001408.2:c.5289+15C>A NP_001399.1:n.5289+15C>A
XM_005270580.3:c.5289+15C>A XP_005270637.1:n.5289+15C>A
NM_001408.3:c.5289+15C>A MANE Select NP_001399.1:n.5289+15C>A
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