Canonical Allele Identifier: CA3654742
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 514414
ClinVar RCV Id: RCV000609105 RCV000954349 RCV001698030 RCV002498952 RCV003945523
dbSNP Id: rs201204772
ExAC: 6:24302022 T / G
gnomAD v2: 6-24302022-T-G
gnomAD v3: 6-24301794-T-G
gnomAD v4: 6-24301794-T-G
MyVariant Identifiers: chr6:g.24302022T>G (hg19) chr6:g.24301794T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301794T>G , CM000668.2:g.24301794T>G GRCh38
NC_000006.11:g.24302022T>G , CM000668.1:g.24302022T>G GRCh37
NC_000006.10:g.24410001T>G NCBI36
NG_012829.1:g.61259A>C
NG_012829.2:g.86499A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.478A>C MANE Select ENSP00000367715.3:p.Arg160=
ENST00000378454.7:c.478A>C ENSP00000367715.3:p.Arg160=
NM_001195610.1:c.478A>C NP_001182539.1:p.Arg160=
NM_016356.4:c.478A>C NP_057440.2:p.Arg160=
NM_016356.5:c.478A>C MANE Select NP_057440.2:p.Arg160=
NM_001195610.2:c.478A>C NP_001182539.1:p.Arg160=
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