Canonical Allele Identifier: CA341502091
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1656135427
gnomAD v3: 1-109264527-A-G
gnomAD v4: 1-109264527-A-G
MyVariant Identifiers: chr1:g.109807149A>G (hg19) chr1:g.109264527A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264527A>G , CM000663.2:g.109264527A>G GRCh38
NC_000001.10:g.109807149A>G , CM000663.1:g.109807149A>G GRCh37
NC_000001.9:g.109608672A>G NCBI36
NG_052669.1:g.19823A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5363A>G MANE Select ENSP00000271332.3:p.Glu1788Gly
ENST00000271332.3:c.5363A>G ENSP00000271332.3:p.Glu1788Gly
NM_001408.2:c.5363A>G NP_001399.1:p.Glu1788Gly
XM_005270580.3:c.5363A>G XP_005270637.1:p.Glu1788Gly
NM_001408.3:c.5363A>G MANE Select NP_001399.1:p.Glu1788Gly
Search 100 bp 5'
Search 100 bp 3'