Canonical Allele Identifier: CA3654749

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 466326
• ClinVar RCV Id: RCV000542960 ; RCV000991875 ; RCV000605753
• dbSNP Id: rs33914824
• ExAC: 6:24302046 G / C
• gnomAD v2: 6-24302046-G-C
• gnomAD v3: 6-24301818-G-C
• gnomAD v4: 6-24301818-G-C
• MyVariant Identifiers: chr6:g.24302046G>C (hg19) ; chr6:g.24301818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301818G>C , CM000668.2:g.24301818G>C	GRCh38
NC_000006.11:g.24302046G>C , CM000668.1:g.24302046G>C	GRCh37
NC_000006.10:g.24410025G>C	NCBI36
NG_012829.1:g.61235C>G
NG_012829.2:g.86475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.454C>G MANE Select	ENSP00000367715.3:p.Pro152Ala
ENST00000378454.7:c.454C>G	ENSP00000367715.3:p.Pro152Ala
NM_001195610.1:c.454C>G	NP_001182539.1:p.Pro152Ala
NM_016356.4:c.454C>G	NP_057440.2:p.Pro152Ala
NM_016356.5:c.454C>G MANE Select	NP_057440.2:p.Pro152Ala
NM_001195610.2:c.454C>G	NP_001182539.1:p.Pro152Ala