Canonical Allele Identifier: CA10651409

Gene: DNM2

Linked Data

• ClinVar Variation Id: 328014
• ClinVar RCV Id: RCV000310377 ; RCV000367578
• dbSNP Id: rs886054149
• gnomAD v4: 19-10831758-T-C
• MyVariant Identifiers: chr19:g.10942434T>C (hg19) ; chr19:g.10831758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10831758T>C , CM000681.2:g.10831758T>C	GRCh38
NC_000019.9:g.10942434T>C , CM000681.1:g.10942434T>C	GRCh37
NC_000019.8:g.10803434T>C	NCBI36
NG_008792.1:g.118680T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681972.1:n.2755T>C
ENST00000355667.11:c.*711T>C	ENSP00000347890.6:n.*711T>C
ENST00000389253.9:c.*711T>C MANE Select	ENSP00000373905.4:n.*711T>C
ENST00000355667.10:c.*711T>C	ENSP00000347890.6:n.*711T>C
ENST00000359692.10:c.*711T>C	ENSP00000352721.6:n.*711T>C
ENST00000389253.8:c.*711T>C	ENSP00000373905.3:n.*711T>C
ENST00000590806.5:n.5512T>C
ENST00000591818.1:c.42-1234T>C	ENSP00000466621.1:n.42-1234T>C
ENST00000593203.1:n.1327-546T>C
NM_001005360.2:c.*711T>C	NP_001005360.1:n.*711T>C
NM_001005361.2:c.*711T>C	NP_001005361.1:n.*711T>C
NM_001005362.2:c.*711T>C	NP_001005362.1:n.*711T>C
NM_001190716.1:c.*711T>C	NP_001177645.1:n.*711T>C
NM_004945.3:c.*711T>C	NP_004936.2:n.*711T>C
NM_001005361.3:c.*711T>C MANE Select	NP_001005361.1:n.*711T>C
NM_001190716.2:c.*711T>C	NP_001177645.1:n.*711T>C
NM_001005360.3:c.*711T>C	NP_001005360.1:n.*711T>C
NM_001005362.3:c.*711T>C	NP_001005362.1:n.*711T>C
NM_004945.4:c.*711T>C	NP_004936.2:n.*711T>C