Canonical Allele Identifier: CA3654545

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 595088
• ClinVar RCV Id: RCV000730534 ; RCV001380952 ; RCV002477701 ; RCV003392566
• dbSNP Id: rs774115675
• ExAC: 6:24205282 G / GC
• gnomAD v2: 6-24205282-G-GC
• gnomAD v3: 6-24205054-G-GC
• gnomAD v4: 6-24205054-G-GC
• COSMIC: COSM5348557 ; COSM5348558
• MyVariant Identifiers: chr6:g.24205282_24205283insC (hg19) ; chr6:g.24205054_24205055insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24205060dup , CM000668.2:g.24205060dup	GRCh38
NC_000006.11:g.24205288dup , CM000668.1:g.24205288dup	GRCh37
NC_000006.10:g.24313267dup	NCBI36
NG_012829.1:g.157998dup
NG_012829.2:g.183238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.970dup MANE Select	ENSP00000367715.3:p.Ala324GlyfsTer8
ENST00000378450.6:c.229dup	ENSP00000367711.3:p.Ala77GlyfsTer8
ENST00000378454.7:c.970dup	ENSP00000367715.3:p.Ala324GlyfsTer8
NM_001195610.1:c.970dup	NP_001182539.1:p.Ala324GlyfsTer8
NM_016356.4:c.970dup	NP_057440.2:p.Ala324GlyfsTer8
NM_016356.5:c.970dup MANE Select	NP_057440.2:p.Ala324GlyfsTer8
NM_001195610.2:c.970dup	NP_001182539.1:p.Ala324GlyfsTer8