Canonical Allele Identifier: CA448963065
Gene: DCDC2 HGNC NCBI

Linked Data

gnomAD v4: 6-24178375-T-C
MyVariant Identifiers: chr6:g.24178603T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178375T>C , CM000668.2:g.24178375T>C GRCh38
NC_000006.11:g.24178603T>C , CM000668.1:g.24178603T>C GRCh37
NC_000006.10:g.24286582T>C NCBI36
NG_012829.1:g.184678A>G
NG_012829.2:g.209918A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1281A>G MANE Select ENSP00000367715.3:p.Leu427=
ENST00000378450.6:c.540A>G ENSP00000367711.3:p.Leu180=
ENST00000378454.7:c.1281A>G ENSP00000367715.3:p.Leu427=
NM_001195610.1:c.1281A>G NP_001182539.1:p.Leu427=
NM_016356.4:c.1281A>G NP_057440.2:p.Leu427=
NM_016356.5:c.1281A>G MANE Select NP_057440.2:p.Leu427=
NM_001195610.2:c.1281A>G NP_001182539.1:p.Leu427=