Canonical Allele Identifier: CA404043779

Gene: DNM2

Linked Data

• ClinVar Variation Id: 465285
• ClinVar RCV Id: RCV001535440
• dbSNP Id: rs1555717200
• gnomAD v4: 19-10830191-G-T
• MyVariant Identifiers: chr19:g.10940867G>T (hg19) ; chr19:g.10830191G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10830191G>T , CM000681.2:g.10830191G>T	GRCh38
NC_000019.9:g.10940867G>T , CM000681.1:g.10940867G>T	GRCh37
NC_000019.8:g.10801867G>T	NCBI36
NG_008792.1:g.117113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681972.1:n.1787G>T
ENST00000355667.11:c.2356G>T	ENSP00000347890.6:p.Gly786Cys
ENST00000389253.9:c.2356G>T MANE Select	ENSP00000373905.4:p.Gly786Cys
ENST00000355667.10:c.2356G>T	ENSP00000347890.6:p.Gly786Cys
ENST00000359692.10:c.2344G>T	ENSP00000352721.6:p.Gly782Cys
ENST00000389253.8:c.2356G>T	ENSP00000373905.3:p.Gly786Cys
ENST00000408974.8:c.2344G>T	ENSP00000386192.3:p.Gly782Cys
ENST00000585892.5:c.2356G>T	ENSP00000468734.1:p.Gly786Cys
ENST00000589106.1:c.222G>T
ENST00000590806.5:n.4544G>T
ENST00000593203.1:n.1139G>T
NM_001005360.2:c.2356G>T	NP_001005360.1:p.Gly786Cys
NM_001005361.2:c.2356G>T	NP_001005361.1:p.Gly786Cys
NM_001005362.2:c.2344G>T	NP_001005362.1:p.Gly782Cys
NM_001190716.1:c.2356G>T	NP_001177645.1:p.Gly786Cys
NM_004945.3:c.2344G>T	NP_004936.2:p.Gly782Cys
NM_001005361.3:c.2356G>T MANE Select	NP_001005361.1:p.Gly786Cys
NM_001190716.2:c.2356G>T	NP_001177645.1:p.Gly786Cys
NM_001005360.3:c.2356G>T	NP_001005360.1:p.Gly786Cys
NM_001005362.3:c.2344G>T	NP_001005362.1:p.Gly782Cys
NM_004945.4:c.2344G>T	NP_004936.2:p.Gly782Cys