Canonical Allele Identifier: CA987480
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs775114428
ExAC: 1:109806974 G / A
gnomAD v2: 1-109806974-G-A
gnomAD v3: 1-109264352-G-A
gnomAD v4: 1-109264352-G-A
MyVariant Identifiers: chr1:g.109806974G>A (hg19) chr1:g.109264352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264352G>A , CM000663.2:g.109264352G>A GRCh38
NC_000001.10:g.109806974G>A , CM000663.1:g.109806974G>A GRCh37
NC_000001.9:g.109608497G>A NCBI36
NG_052669.1:g.19648G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5276G>A MANE Select ENSP00000271332.3:p.Arg1759Gln
ENST00000271332.3:c.5276G>A ENSP00000271332.3:p.Arg1759Gln
NM_001408.2:c.5276G>A NP_001399.1:p.Arg1759Gln
XM_005270580.3:c.5276G>A XP_005270637.1:p.Arg1759Gln
NM_001408.3:c.5276G>A MANE Select NP_001399.1:p.Arg1759Gln
Search 100 bp 5'
Search 100 bp 3'