Canonical Allele Identifier: CA566291316

Gene: DCDC2

Linked Data

• dbSNP Id: rs1320114990
• gnomAD v2: 6-24302047-GTT-G
• gnomAD v4: 6-24301819-GTT-G
• MyVariant Identifiers: chr6:g.24302048_24302049del (hg19) ; chr6:g.24301820_24301821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301821_24301822del , CM000668.2:g.24301821_24301822del	GRCh38
NC_000006.11:g.24302049_24302050del , CM000668.1:g.24302049_24302050del	GRCh37
NC_000006.10:g.24410028_24410029del	NCBI36
NG_012829.1:g.61232_61233del
NG_012829.2:g.86472_86473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.451_452del MANE Select	ENSP00000367715.3:p.Asn151ProfsTer?
ENST00000378454.7:c.451_452del	ENSP00000367715.3:p.Asn151ProfsTer?
NM_001195610.1:c.451_452del	NP_001182539.1:p.Asn151ProfsTer?
NM_016356.4:c.451_452del	NP_057440.2:p.Asn151ProfsTer?
NM_016356.5:c.451_452del MANE Select	NP_057440.2:p.Asn151ProfsTer?
NM_001195610.2:c.451_452del	NP_001182539.1:p.Asn151ProfsTer?