Canonical Allele Identifier: CA11299148
Gene: DNMT3A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.25231099C>G
GRCh37 chr2:g.25453968C>G
gnomAD v2:
2:25453968 C / G
gnomAD v3:
2:25231099 C / G
gnomAD v4:
chr2-25231099-C-G
Joint Max Group AF 0.33502433 (AMR)
Genomes Max Group AF 0.33493813 (AMR)
Exomes Max Group AF 0.17768 (AMR)
dbSNP:
13420827
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25231099C>G , CM000664.2:g.25231099C>G GRCh38
NC_000002.11:g.25453968C>G , CM000664.1:g.25453968C>G GRCh37
NC_000002.10:g.25307472C>G NCBI36
NG_029465.2:g.116492G>C , LRG_459:g.116492G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321117.10:c.*3180G>C MANE Select ENSP00000324375.5:n.*3180G>C
ENST00000264709.7:c.*3180G>C ENSP00000264709.3:n.*3180G>C
NR_135490.2:n.6349G>C
NM_022552.5:c.*3180G>C MANE Select NP_072046.2:n.*3180G>C
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