Canonical Allele Identifier: CA3654431
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1195693
ClinVar RCV Id: RCV001558874 RCV002568382
dbSNP Id: rs146868469
ExAC: 6:24174967 G / A
gnomAD v2: 6-24174967-G-A
gnomAD v3: 6-24174739-G-A
gnomAD v4: 6-24174739-G-A
MyVariant Identifiers: chr6:g.24174967G>A (hg19) chr6:g.24174739G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174739G>A , CM000668.2:g.24174739G>A GRCh38
NC_000006.11:g.24174967G>A , CM000668.1:g.24174967G>A GRCh37
NC_000006.10:g.24282946G>A NCBI36
NG_012829.1:g.188314C>T
NG_012829.2:g.213554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1422C>T MANE Select ENSP00000367715.3:p.Ala474=
ENST00000378450.6:c.681C>T ENSP00000367711.3:p.Ala227=
ENST00000378454.7:c.1422C>T ENSP00000367715.3:p.Ala474=
NM_001195610.1:c.1422C>T NP_001182539.1:p.Ala474=
NM_016356.4:c.1422C>T NP_057440.2:p.Ala474=
NM_016356.5:c.1422C>T MANE Select NP_057440.2:p.Ala474=
NM_001195610.2:c.1422C>T NP_001182539.1:p.Ala474=
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