Canonical Allele Identifier: CA3654469
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs749297858
ExAC: 6:24178611 G / A
gnomAD v2: 6-24178611-G-A
gnomAD v4: 6-24178383-G-A
MyVariant Identifiers: chr6:g.24178611G>A (hg19) chr6:g.24178383G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178383G>A , CM000668.2:g.24178383G>A GRCh38
NC_000006.11:g.24178611G>A , CM000668.1:g.24178611G>A GRCh37
NC_000006.10:g.24286590G>A NCBI36
NG_012829.1:g.184670C>T
NG_012829.2:g.209910C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1273C>T MANE Select ENSP00000367715.3:p.Leu425=
ENST00000378450.6:c.532C>T ENSP00000367711.3:p.Leu178=
ENST00000378454.7:c.1273C>T ENSP00000367715.3:p.Leu425=
NM_001195610.1:c.1273C>T NP_001182539.1:p.Leu425=
NM_016356.4:c.1273C>T NP_057440.2:p.Leu425=
NM_016356.5:c.1273C>T MANE Select NP_057440.2:p.Leu425=
NM_001195610.2:c.1273C>T NP_001182539.1:p.Leu425=
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