Canonical Allele Identifier: CA3654791

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 180689
• ClinVar RCV Id: RCV000157644 ; RCV000731261 ; RCV001850190 ; RCV002498783
• dbSNP Id: rs760040426
• ExAC: 6:24302274 T / C
• gnomAD v2: 6-24302274-T-C
• gnomAD v4: 6-24302046-T-C
• MyVariant Identifiers: chr6:g.24302274T>C (hg19) ; chr6:g.24302046T>C (hg38)
• PubMed: PMID:25557784

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24302046T>C , CM000668.2:g.24302046T>C	GRCh38
NC_000006.11:g.24302274T>C , CM000668.1:g.24302274T>C	GRCh37
NC_000006.10:g.24410253T>C	NCBI36
NG_012829.1:g.61007A>G
NG_012829.2:g.86247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.349-2A>G MANE Select	ENSP00000367715.3:n.349-2A>G
ENST00000378454.7:c.349-2A>G	ENSP00000367715.3:n.349-2A>G
NM_001195610.1:c.349-2A>G	NP_001182539.1:n.349-2A>G
NM_016356.4:c.349-2A>G	NP_057440.2:n.349-2A>G
NM_016356.5:c.349-2A>G MANE Select	NP_057440.2:n.349-2A>G
NM_001195610.2:c.349-2A>G	NP_001182539.1:n.349-2A>G