Canonical Allele Identifier: CA3654623
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1988817
ClinVar RCV Id: RCV002795355
dbSNP Id: rs746503285
ExAC: 6:24278333 G / A
gnomAD v2: 6-24278333-G-A
gnomAD v3: 6-24278105-G-A
gnomAD v4: 6-24278105-G-A
MyVariant Identifiers: chr6:g.24278333G>A (hg19) chr6:g.24278105G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24278105G>A , CM000668.2:g.24278105G>A GRCh38
NC_000006.11:g.24278333G>A , CM000668.1:g.24278333G>A GRCh37
NC_000006.10:g.24386312G>A NCBI36
NG_012829.1:g.84948C>T
NG_012829.2:g.110188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.866C>T MANE Select ENSP00000367715.3:p.Thr289Met
ENST00000378454.7:c.866C>T ENSP00000367715.3:p.Thr289Met
NM_001195610.1:c.866C>T NP_001182539.1:p.Thr289Met
NM_016356.4:c.866C>T NP_057440.2:p.Thr289Met
NM_016356.5:c.866C>T MANE Select NP_057440.2:p.Thr289Met
NM_001195610.2:c.866C>T NP_001182539.1:p.Thr289Met
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