Canonical Allele Identifier: CA363280373
Gene: DCDC2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24290986T>A
GRCh37 chr6:g.24291214T>A
Revel Score:
ENST00000378454 (MANE Select) 0.525
gnomAD v2:
6:24291214 T / A
gnomAD v4:
chr6-24290986-T-A
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV003442320
ClinVar Variation:
2663132
dbSNP:
1357403456
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290986T>A , CM000668.2:g.24290986T>A GRCh38
NC_000006.11:g.24291214T>A , CM000668.1:g.24291214T>A GRCh37
NC_000006.10:g.24399193T>A NCBI36
NG_012829.1:g.72067A>T
NG_012829.2:g.97307A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.650A>T MANE Select ENSP00000367715.3:p.Lys217Ile
ENST00000378454.7:c.650A>T ENSP00000367715.3:p.Lys217Ile
NM_001195610.1:c.650A>T NP_001182539.1:p.Lys217Ile
NM_016356.4:c.650A>T NP_057440.2:p.Lys217Ile
NM_016356.5:c.650A>T MANE Select NP_057440.2:p.Lys217Ile
NM_001195610.2:c.650A>T NP_001182539.1:p.Lys217Ile
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