Canonical Allele Identifier: CA363278565
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053179
ClinVar RCV Id: RCV002938014
dbSNP Id: rs1341118731
gnomAD v2: 6-24174983-T-G
gnomAD v3: 6-24174755-T-G
gnomAD v4: 6-24174755-T-G
MyVariant Identifiers: chr6:g.24174983T>G (hg19) chr6:g.24174755T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174755T>G , CM000668.2:g.24174755T>G GRCh38
NC_000006.11:g.24174983T>G , CM000668.1:g.24174983T>G GRCh37
NC_000006.10:g.24282962T>G NCBI36
NG_012829.1:g.188298A>C
NG_012829.2:g.213538A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1406A>C MANE Select ENSP00000367715.3:p.Asn469Thr
ENST00000378450.6:c.665A>C ENSP00000367711.3:p.Asn222Thr
ENST00000378454.7:c.1406A>C ENSP00000367715.3:p.Asn469Thr
NM_001195610.1:c.1406A>C NP_001182539.1:p.Asn469Thr
NM_016356.4:c.1406A>C NP_057440.2:p.Asn469Thr
NM_016356.5:c.1406A>C MANE Select NP_057440.2:p.Asn469Thr
NM_001195610.2:c.1406A>C NP_001182539.1:p.Asn469Thr
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