Canonical Allele Identifier: CA363279992
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395243
ClinVar RCV Id: RCV001891336
dbSNP Id: rs1367144327
gnomAD v2: 6-24178661-G-A
gnomAD v3: 6-24178433-G-A
gnomAD v4: 6-24178433-G-A
MyVariant Identifiers: chr6:g.24178661G>A (hg19) chr6:g.24178433G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178433G>A , CM000668.2:g.24178433G>A GRCh38
NC_000006.11:g.24178661G>A , CM000668.1:g.24178661G>A GRCh37
NC_000006.10:g.24286640G>A NCBI36
NG_012829.1:g.184620C>T
NG_012829.2:g.209860C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1223C>T MANE Select ENSP00000367715.3:p.Thr408Ile
ENST00000378450.6:c.482C>T ENSP00000367711.3:p.Thr161Ile
ENST00000378454.7:c.1223C>T ENSP00000367715.3:p.Thr408Ile
NM_001195610.1:c.1223C>T NP_001182539.1:p.Thr408Ile
NM_016356.4:c.1223C>T NP_057440.2:p.Thr408Ile
NM_016356.5:c.1223C>T MANE Select NP_057440.2:p.Thr408Ile
NM_001195610.2:c.1223C>T NP_001182539.1:p.Thr408Ile
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