Canonical Allele Identifier: CA10583709

Gene: DNM2

Linked Data

• ClinVar Variation Id: 238206
• ClinVar RCV Id: RCV000232026 ; RCV001423278 ; RCV002418002
• dbSNP Id: rs878854149
• gnomAD v4: 19-10759786-T-C
• MyVariant Identifiers: chr19:g.10870462T>C (hg19) ; chr19:g.10759786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10759786T>C , CM000681.2:g.10759786T>C	GRCh38
NC_000019.9:g.10870462T>C , CM000681.1:g.10870462T>C	GRCh37
NC_000019.8:g.10731462T>C	NCBI36
NG_008792.1:g.46708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.398T>C
ENST00000682524.1:n.398T>C
ENST00000683738.1:n.398T>C
ENST00000355667.11:c.210T>C	ENSP00000347890.6:p.Ile70=
ENST00000389253.9:c.210T>C MANE Select	ENSP00000373905.4:p.Ile70=
ENST00000355667.10:c.210T>C	ENSP00000347890.6:p.Ile70=
ENST00000359692.10:c.210T>C	ENSP00000352721.6:p.Ile70=
ENST00000389253.8:c.210T>C	ENSP00000373905.3:p.Ile70=
ENST00000408974.8:c.210T>C	ENSP00000386192.3:p.Ile70=
ENST00000585892.5:c.210T>C	ENSP00000468734.1:p.Ile70=
ENST00000586939.5:c.-265T>C	ENSP00000467430.1:n.-265T>C
ENST00000588976.1:n.521T>C
NM_001005360.2:c.210T>C	NP_001005360.1:p.Ile70=
NM_001005361.2:c.210T>C	NP_001005361.1:p.Ile70=
NM_001005362.2:c.210T>C	NP_001005362.1:p.Ile70=
NM_001190716.1:c.210T>C	NP_001177645.1:p.Ile70=
NM_004945.3:c.210T>C	NP_004936.2:p.Ile70=
NM_001005361.3:c.210T>C MANE Select	NP_001005361.1:p.Ile70=
NM_001190716.2:c.210T>C	NP_001177645.1:p.Ile70=
NM_001005360.3:c.210T>C	NP_001005360.1:p.Ile70=
NM_001005362.3:c.210T>C	NP_001005362.1:p.Ile70=
NM_004945.4:c.210T>C	NP_004936.2:p.Ile70=