Canonical Allele Identifier: CA3654753

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 502792
• ClinVar RCV Id: RCV000593504 ; RCV001868001 ; RCV002483664 ; RCV003302925
• dbSNP Id: rs200595563
• ExAC: 6:24302055 G / A
• gnomAD v2: 6-24302055-G-A
• gnomAD v3: 6-24301827-G-A
• gnomAD v4: 6-24301827-G-A
• MyVariant Identifiers: chr6:g.24302055G>A (hg19) ; chr6:g.24301827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301827G>A , CM000668.2:g.24301827G>A	GRCh38
NC_000006.11:g.24302055G>A , CM000668.1:g.24302055G>A	GRCh37
NC_000006.10:g.24410034G>A	NCBI36
NG_012829.1:g.61226C>T
NG_012829.2:g.86466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.445C>T MANE Select	ENSP00000367715.3:p.Leu149Phe
ENST00000378454.7:c.445C>T	ENSP00000367715.3:p.Leu149Phe
NM_001195610.1:c.445C>T	NP_001182539.1:p.Leu149Phe
NM_016356.4:c.445C>T	NP_057440.2:p.Leu149Phe
NM_016356.5:c.445C>T MANE Select	NP_057440.2:p.Leu149Phe
NM_001195610.2:c.445C>T	NP_001182539.1:p.Leu149Phe