Canonical Allele Identifier: CA356449

Gene: DVL3 EIF2B5

Linked Data

• ClinVar Variation Id: 219219
• ClinVar RCV Id: RCV000208665 ; RCV000210487 ; RCV003126594
• dbSNP Id: rs869025216
• MyVariant Identifiers: chr3:g.183888105A>G (hg19) ; chr3:g.184170317A>G (hg38)
• PubMed: PMID:26924530

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184170317A>G , CM000665.2:g.184170317A>G	GRCh38
NC_000003.11:g.183888105A>G , CM000665.1:g.183888105A>G	GRCh37
NC_000003.10:g.185370799A>G	NCBI36
NG_046860.1:g.20007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313143.9:c.1715-2A>G (DVL3) MANE Select	ENSP00000316054.3:n.1715-2A>G
ENST00000431765.6:c.1664-2A>G (DVL3)	ENSP00000405885.1:n.1664-2A>G
ENST00000649847.1:c.1041-2A>G (DVL3)	ENSP00000497654.1:n.1041-2A>G
ENST00000313143.7:c.1715-2A>G (DVL3)	ENSP00000316054.3:n.1715-2A>G
ENST00000431765.5:c.1664-2A>G (DVL3)	ENSP00000405885.1:n.1664-2A>G
ENST00000444495.1:c.2106+25610A>G (EIF2B5)	ENSP00000409142.1:n.2106+25610A>G
ENST00000478247.1:n.1715-2A>G (DVL3)
NM_004423.3:c.1715-2A>G (DVL3)	NP_004414.3:n.1715-2A>G
XM_005247172.1:c.1715-2A>G (DVL3)	XP_005247229.1:n.1715-2A>G
XM_011512513.1:c.1211-2A>G (DVL3)	XP_011510815.1:n.1211-2A>G
NM_004423.4:c.1715-2A>G (DVL3) MANE Select	NP_004414.3:n.1715-2A>G
XM_005247172.2:c.1715-2A>G (DVL3)	XP_005247229.1:n.1715-2A>G
XM_011512513.2:c.1211-2A>G (DVL3)	XP_011510815.1:n.1211-2A>G