Canonical Allele Identifier: CA3654434

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 508595
• ClinVar RCV Id: RCV000615448 ; RCV000711409 ; 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)

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