Canonical Allele Identifier: CA118608
Gene: CELSR2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.109274968G>T
GRCh37 chr1:g.109817590G>T
gnomAD v2:
1:109817590 G / T
gnomAD v3:
1:109274968 G / T
gnomAD v4:
chr1-109274968-G-T
Joint Max Group AF 0.24533922 (AFR)
Genomes Max Group AF 0.24533922 (AFR)
Exomes Max Group AF 0.04104433 (NFE)
ClinVar RCV:
RCV000007497
ClinVar Variation:
7081
dbSNP:
12740374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109274968G>T , CM000663.2:g.109274968G>T GRCh38
NC_000001.10:g.109817590G>T , CM000663.1:g.109817590G>T GRCh37
NC_000001.9:g.109619113G>T NCBI36
NG_052669.1:g.30264G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.*919G>T MANE Select ENSP00000271332.3:n.*919G>T
ENST00000271332.3:c.*919G>T ENSP00000271332.3:n.*919G>T
ENST00000498157.1:n.3041G>T
NM_001408.2:c.*919G>T NP_001399.1:n.*919G>T
XM_005270580.3:c.*786G>T XP_005270637.1:n.*786G>T
NM_001408.3:c.*919G>T MANE Select NP_001399.1:n.*919G>T
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