Canonical Allele Identifier: CA1086928575
Gene: DCDC2 HGNC NCBI
gnomAD v3:
6:24347826 A / C
gnomAD v4:
chr6-24347826-A-C
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24347826A>C , CM000668.2:g.24347826A>C GRCh38
NC_000006.11:g.24348054A>C , CM000668.1:g.24348054A>C GRCh37
NC_000006.10:g.24456033A>C NCBI36
NG_012829.1:g.15227T>G
NG_012829.2:g.40467T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.348+5743T>G MANE Select ENSP00000367715.3:n.348+5743T>G
ENST00000378454.7:c.348+5743T>G ENSP00000367715.3:n.348+5743T>G
NM_001195610.1:c.348+5743T>G NP_001182539.1:n.348+5743T>G
NM_016356.4:c.348+5743T>G NP_057440.2:n.348+5743T>G
NM_016356.5:c.348+5743T>G MANE Select NP_057440.2:n.348+5743T>G
NM_001195610.2:c.348+5743T>G NP_001182539.1:n.348+5743T>G
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