Canonical Allele Identifier: CA12596657
Gene: WNT2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.117278031C>T
GRCh37 chr7:g.116918085C>T
gnomAD v2:
7:116918085 C / T
gnomAD v3:
7:117278031 C / T
gnomAD v4:
chr7-117278031-C-T
Joint Max Group AF 0.327639 (AFR)
Genomes Max Group AF 0.32450419 (AFR)
Exomes Max Group AF 0.32918662 (AFR)
dbSNP:
2228946
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117278031C>T , CM000669.2:g.117278031C>T GRCh38
NC_000007.13:g.116918085C>T , CM000669.1:g.116918085C>T GRCh37
NC_000007.12:g.116705321C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265441.8:c.*124G>A MANE Select ENSP00000265441.3:n.*124G>A
ENST00000647844.1:c.*1122G>A ENSP00000497695.1:n.*1122G>A
ENST00000265441.7:c.*124G>A ENSP00000265441.3:n.*124G>A
ENST00000449446.5:c.*810G>A ENSP00000389643.1:n.*810G>A
NM_003391.2:c.*124G>A NP_003382.1:n.*124G>A
NR_024047.1:n.1443G>A
NM_003391.3:c.*124G>A MANE Select NP_003382.1:n.*124G>A
NR_024047.2:n.1212G>A
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