Canonical Allele Identifier: CA1188031972
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs660240
gnomAD v4: 1-109275216-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109275216T>A , CM000663.2:g.109275216T>A GRCh38
NC_000001.10:g.109817838T>A , CM000663.1:g.109817838T>A GRCh37
NC_000001.9:g.109619361T>A NCBI36
NG_052669.1:g.30512T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000271332.4:c.*1167T>A MANE Select ENSP00000271332.3:n.*1167T>A
ENST00000271332.3:c.*1167T>A ENSP00000271332.3:n.*1167T>A
ENST00000498157.1:n.3289T>A
NM_001408.2:c.*1167T>A NP_001399.1:n.*1167T>A
XM_005270580.3:c.*1034T>A XP_005270637.1:n.*1034T>A
NM_001408.3:c.*1167T>A MANE Select NP_001399.1:n.*1167T>A
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