Canonical Allele Identifier: CA3654487
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3030817
ClinVar RCV Id: RCV003893970
dbSNP Id: rs754991150
ExAC: 6:24178672 T / G
gnomAD v2: 6-24178672-T-G
gnomAD v4: 6-24178444-T-G
MyVariant Identifiers: chr6:g.24178672T>G (hg19) chr6:g.24178444T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178444T>G , CM000668.2:g.24178444T>G GRCh38
NC_000006.11:g.24178672T>G , CM000668.1:g.24178672T>G GRCh37
NC_000006.10:g.24286651T>G NCBI36
NG_012829.1:g.184609A>C
NG_012829.2:g.209849A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1212A>C MANE Select ENSP00000367715.3:p.Val404=
ENST00000378450.6:c.471A>C ENSP00000367711.3:p.Val157=
ENST00000378454.7:c.1212A>C ENSP00000367715.3:p.Val404=
NM_001195610.1:c.1212A>C NP_001182539.1:p.Val404=
NM_016356.4:c.1212A>C NP_057440.2:p.Val404=
NM_016356.5:c.1212A>C MANE Select NP_057440.2:p.Val404=
NM_001195610.2:c.1212A>C NP_001182539.1:p.Val404=
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