Canonical Allele Identifier: CA136637324

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 417769
• ClinVar RCV Id: RCV000477740 ; RCV000593742 ; RCV000692639
• dbSNP Id: rs904944428
• gnomAD v2: 6-24301970-A-AT
• gnomAD v3: 6-24301742-A-AT
• gnomAD v4: 6-24301742-A-AT
• MyVariant Identifiers: chr6:g.24301971dup (hg19) ; chr6:g.24301970_24301971insT (hg19) ; chr6:g.24301743dup (hg38) ; chr6:g.24301742_24301743insT (hg38)
• PubMed: PMID:23891399 ; PMID:27469900

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301748dup , CM000668.2:g.24301748dup	GRCh38
NC_000006.11:g.24301976dup , CM000668.1:g.24301976dup	GRCh37
NC_000006.10:g.24409955dup	NCBI36
NG_012829.1:g.61310dup
NG_012829.2:g.86550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.529dup MANE Select	ENSP00000367715.3:p.Ile177AsnfsTer20
ENST00000378454.7:c.529dup	ENSP00000367715.3:p.Ile177AsnfsTer20
NM_001195610.1:c.529dup	NP_001182539.1:p.Ile177AsnfsTer20
NM_016356.4:c.529dup	NP_057440.2:p.Ile177AsnfsTer20
NM_016356.5:c.529dup MANE Select	NP_057440.2:p.Ile177AsnfsTer20
NM_001195610.2:c.529dup	NP_001182539.1:p.Ile177AsnfsTer20