Canonical Allele Identifier: CA136621787
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs140626877
gnomAD v2: 6-24174984-T-G
gnomAD v4: 6-24174756-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174756T>G , CM000668.2:g.24174756T>G GRCh38
NC_000006.11:g.24174984T>G , CM000668.1:g.24174984T>G GRCh37
NC_000006.10:g.24282963T>G NCBI36
NG_012829.1:g.188297A>C
NG_012829.2:g.213537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1405A>C MANE Select ENSP00000367715.3:p.Asn469His
ENST00000378450.6:c.664A>C ENSP00000367711.3:p.Asn222His
ENST00000378454.7:c.1405A>C ENSP00000367715.3:p.Asn469His
NM_001195610.1:c.1405A>C NP_001182539.1:p.Asn469His
NM_016356.4:c.1405A>C NP_057440.2:p.Asn469His
NM_016356.5:c.1405A>C MANE Select NP_057440.2:p.Asn469His
NM_001195610.2:c.1405A>C NP_001182539.1:p.Asn469His