Canonical Allele Identifier: CA10982517
Gene: WASF2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.27405147C>T
GRCh37 chr1:g.27731651C>T
gnomAD v2:
1:27731651 C / T
gnomAD v3:
1:27405147 C / T
gnomAD v4:
chr1-27405147-C-T
Joint Max Group AF 0.16976972 (NFE)
Genomes Max Group AF 0.16969446 (NFE)
Exomes Max Group AF 0.17310456 (NFE)
dbSNP:
11548323
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27405147C>T , CM000663.2:g.27405147C>T GRCh38
NC_000001.10:g.27731651C>T , CM000663.1:g.27731651C>T GRCh37
NC_000001.9:g.27604238C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000618852.5:c.*3042G>A MANE Select ENSP00000483313.1:n.*3042G>A
ENST00000618852.4:c.*3042G>A ENSP00000483313.1:n.*3042G>A
NM_001201404.2:c.*3178G>A NP_001188333.1:n.*3178G>A
NM_006990.4:c.*3042G>A NP_008921.1:n.*3042G>A
NM_006990.5:c.*3042G>A MANE Select NP_008921.1:n.*3042G>A
NM_001201404.3:c.*3178G>A NP_001188333.1:n.*3178G>A
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