Canonical Allele Identifier: CA3654434
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 508595
ClinVar RCV Id: RCV001522082
dbSNP Id: rs9460973
ExAC: 6:24175021 T / A
gnomAD v2: 6-24175021-T-A
gnomAD v3: 6-24174793-T-A
gnomAD v4: 6-24174793-T-A
MyVariant Identifiers: chr6:g.24175021T>A (hg19) chr6:g.24174793T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174793T>A , CM000668.2:g.24174793T>A GRCh38
NC_000006.11:g.24175021T>A , CM000668.1:g.24175021T>A GRCh37
NC_000006.10:g.24283000T>A NCBI36
NG_012829.1:g.188260A>T
NG_012829.2:g.213500A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1368A>T MANE Select ENSP00000367715.3:p.Lys456Asn
ENST00000378450.6:c.627A>T ENSP00000367711.3:p.Lys209Asn
ENST00000378454.7:c.1368A>T ENSP00000367715.3:p.Lys456Asn
NM_001195610.1:c.1368A>T NP_001182539.1:p.Lys456Asn
NM_016356.4:c.1368A>T NP_057440.2:p.Lys456Asn
NM_016356.5:c.1368A>T MANE Select NP_057440.2:p.Lys456Asn
NM_001195610.2:c.1368A>T NP_001182539.1:p.Lys456Asn
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