Canonical Allele Identifier: CA363277978
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598691
ClinVar RCV Id: RCV000735147
dbSNP Id: rs1561755265
gnomAD v4: 6-24278102-T-C
MyVariant Identifiers: chr6:g.24278330T>C (hg19) chr6:g.24278102T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24278102T>C , CM000668.2:g.24278102T>C GRCh38
NC_000006.11:g.24278330T>C , CM000668.1:g.24278330T>C GRCh37
NC_000006.10:g.24386309T>C NCBI36
NG_012829.1:g.84951A>G
NG_012829.2:g.110191A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.869A>G MANE Select ENSP00000367715.3:p.Lys290Arg
ENST00000378454.7:c.869A>G ENSP00000367715.3:p.Lys290Arg
NM_001195610.1:c.869A>G NP_001182539.1:p.Lys290Arg
NM_016356.4:c.869A>G NP_057440.2:p.Lys290Arg
NM_016356.5:c.869A>G MANE Select NP_057440.2:p.Lys290Arg
NM_001195610.2:c.869A>G NP_001182539.1:p.Lys290Arg
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