Canonical Allele Identifier: CA993484695

Gene: DNM2

Linked Data

• ClinVar Variation Id: 2783330
• ClinVar RCV Id: RCV003618155
• dbSNP Id: rs776227722
• gnomAD v3: 19-10793704-T-A
• gnomAD v4: 19-10793704-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793704T>A , CM000681.2:g.10793704T>A	GRCh38
NC_000019.9:g.10904380T>A , CM000681.1:g.10904380T>A	GRCh37
NC_000019.8:g.10765380T>A	NCBI36
NG_008792.1:g.80626T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.1181-16T>A
ENST00000682524.1:n.1181-16T>A
ENST00000683738.1:n.1181-16T>A
ENST00000355667.11:c.993-16T>A	ENSP00000347890.6:n.993-16T>A
ENST00000389253.9:c.993-16T>A MANE Select	ENSP00000373905.4:n.993-16T>A
ENST00000355667.10:c.993-16T>A	ENSP00000347890.6:n.993-16T>A
ENST00000359692.10:c.993-16T>A	ENSP00000352721.6:n.993-16T>A
ENST00000389253.8:c.993-16T>A	ENSP00000373905.3:n.993-16T>A
ENST00000408974.8:c.993-16T>A	ENSP00000386192.3:n.993-16T>A
ENST00000585892.5:c.993-16T>A	ENSP00000468734.1:n.993-16T>A
ENST00000587485.1:n.499-16T>A
ENST00000587830.2:c.249-16T>A	ENSP00000466603.2:n.249-16T>A
ENST00000591701.5:n.353-16T>A
NM_001005360.2:c.993-16T>A	NP_001005360.1:n.993-16T>A
NM_001005361.2:c.993-16T>A	NP_001005361.1:n.993-16T>A
NM_001005362.2:c.993-16T>A	NP_001005362.1:n.993-16T>A
NM_001190716.1:c.993-16T>A	NP_001177645.1:n.993-16T>A
NM_004945.3:c.993-16T>A	NP_004936.2:n.993-16T>A
NM_001005361.3:c.993-16T>A MANE Select	NP_001005361.1:n.993-16T>A
NM_001190716.2:c.993-16T>A	NP_001177645.1:n.993-16T>A
NM_001005360.3:c.993-16T>A	NP_001005360.1:n.993-16T>A
NM_001005362.3:c.993-16T>A	NP_001005362.1:n.993-16T>A
NM_004945.4:c.993-16T>A	NP_004936.2:n.993-16T>A