Canonical Allele Identifier: CA136636018
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035839
ClinVar RCV Id: RCV001338764 RCV002486357
dbSNP Id: rs1043649931
gnomAD v2: 6-24291179-T-C
gnomAD v3: 6-24290951-T-C
gnomAD v4: 6-24290951-T-C
MyVariant Identifiers: chr6:g.24291179T>C (hg19) chr6:g.24290951T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290951T>C , CM000668.2:g.24290951T>C GRCh38
NC_000006.11:g.24291179T>C , CM000668.1:g.24291179T>C GRCh37
NC_000006.10:g.24399158T>C NCBI36
NG_012829.1:g.72102A>G
NG_012829.2:g.97342A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.685A>G MANE Select ENSP00000367715.3:p.Thr229Ala
ENST00000378454.7:c.685A>G ENSP00000367715.3:p.Thr229Ala
NM_001195610.1:c.685A>G NP_001182539.1:p.Thr229Ala
NM_016356.4:c.685A>G NP_057440.2:p.Thr229Ala
NM_016356.5:c.685A>G MANE Select NP_057440.2:p.Thr229Ala
NM_001195610.2:c.685A>G NP_001182539.1:p.Thr229Ala
Search 100 bp 5'
Search 100 bp 3'