Canonical Allele Identifier: CA136621785
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs952408909
gnomAD v2: 6-24174962-G-A
gnomAD v3: 6-24174734-G-A
gnomAD v4: 6-24174734-G-A
MyVariant Identifiers: chr6:g.24174962G>A (hg19) chr6:g.24174734G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24174734G>A , CM000668.2:g.24174734G>A GRCh38
NC_000006.11:g.24174962G>A , CM000668.1:g.24174962G>A GRCh37
NC_000006.10:g.24282941G>A NCBI36
NG_012829.1:g.188319C>T
NG_012829.2:g.213559C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1427C>T MANE Select ENSP00000367715.3:p.Ala476Val
ENST00000378450.6:c.686C>T ENSP00000367711.3:p.Ala229Val
ENST00000378454.7:c.1427C>T ENSP00000367715.3:p.Ala476Val
NM_001195610.1:c.1427C>T NP_001182539.1:p.Ala476Val
NM_016356.4:c.1427C>T NP_057440.2:p.Ala476Val
NM_016356.5:c.1427C>T MANE Select NP_057440.2:p.Ala476Val
NM_001195610.2:c.1427C>T NP_001182539.1:p.Ala476Val
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