Canonical Allele Identifier: CA10736153
Gene: CELSR2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.109275216T>C
GRCh37 chr1:g.109817838T>C
gnomAD v2:
1:109817838 T / C
gnomAD v3:
1:109275216 T / C
gnomAD v4:
chr1-109275216-T-C
Joint Max Group AF 0.9144514 (EAS)
Genomes Max Group AF 0.9144514 (EAS)
Exomes Max Group AF 0.62209702 (NFE)
dbSNP:
660240
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Genomic Alleles

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

Transcript Alleles

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