Canonical Allele Identifier: CA136622181
Gene: DCDC2 HGNC NCBI
COSMIC:
COSN17912575 (not active)
MyVariant.info:
GRCh38 chr6:g.24178078G>A
GRCh37 chr6:g.24178306G>A
gnomAD v2:
6:24178306 G / A
gnomAD v3:
6:24178078 G / A
gnomAD v4:
chr6-24178078-G-A
Joint Max Group AF 0.95056902 (EAS)
Genomes Max Group AF 0.95056902 (EAS)
ClinVar RCV:
RCV001673677
ClinVar Variation:
1259301
dbSNP:
1419228
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178078G>A , CM000668.2:g.24178078G>A GRCh38
NC_000006.11:g.24178306G>A , CM000668.1:g.24178306G>A GRCh37
NC_000006.10:g.24286285G>A NCBI36
NG_012829.1:g.184975C>T
NG_012829.2:g.210215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1326+252C>T MANE Select ENSP00000367715.3:n.1326+252C>T
ENST00000378450.6:c.585+252C>T ENSP00000367711.3:n.585+252C>T
ENST00000378454.7:c.1326+252C>T ENSP00000367715.3:n.1326+252C>T
NM_001195610.1:c.1326+252C>T NP_001182539.1:n.1326+252C>T
NM_016356.4:c.1326+252C>T NP_057440.2:n.1326+252C>T
NM_016356.5:c.1326+252C>T MANE Select NP_057440.2:n.1326+252C>T
NM_001195610.2:c.1326+252C>T NP_001182539.1:n.1326+252C>T
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