Canonical Allele Identifier: CA9201112

Gene: DNM2

Linked Data

• dbSNP Id: rs377147804
• ExAC: 19:10909121 C / T
• gnomAD v2: 19-10909121-C-T
• gnomAD v3: 19-10798445-C-T
• gnomAD v4: 19-10798445-C-T
• MyVariant Identifiers: chr19:g.10909121C>T (hg19) ; chr19:g.10798445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10798445C>T , CM000681.2:g.10798445C>T	GRCh38
NC_000019.9:g.10909121C>T , CM000681.1:g.10909121C>T	GRCh37
NC_000019.8:g.10770121C>T	NCBI36
NG_008792.1:g.85367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1524-41C>T
ENST00000683738.1:n.1663-41C>T
ENST00000355667.11:c.1336-41C>T	ENSP00000347890.6:n.1336-41C>T
ENST00000389253.9:c.1336-41C>T MANE Select	ENSP00000373905.4:n.1336-41C>T
ENST00000355667.10:c.1336-41C>T	ENSP00000347890.6:n.1336-41C>T
ENST00000359692.10:c.1336-41C>T	ENSP00000352721.6:n.1336-41C>T
ENST00000389253.8:c.1336-41C>T	ENSP00000373905.3:n.1336-41C>T
ENST00000408974.8:c.1336-41C>T	ENSP00000386192.3:n.1336-41C>T
ENST00000585892.5:c.1336-41C>T	ENSP00000468734.1:n.1336-41C>T
ENST00000587329.1:n.59C>T
ENST00000587830.2:c.592-41C>T	ENSP00000466603.2:n.592-41C>T
ENST00000593220.1:n.485-41C>T
NM_001005360.2:c.1336-41C>T	NP_001005360.1:n.1336-41C>T
NM_001005361.2:c.1336-41C>T	NP_001005361.1:n.1336-41C>T
NM_001005362.2:c.1336-41C>T	NP_001005362.1:n.1336-41C>T
NM_001190716.1:c.1336-41C>T	NP_001177645.1:n.1336-41C>T
NM_004945.3:c.1336-41C>T	NP_004936.2:n.1336-41C>T
NM_001005361.3:c.1336-41C>T MANE Select	NP_001005361.1:n.1336-41C>T
NM_001190716.2:c.1336-41C>T	NP_001177645.1:n.1336-41C>T
NM_001005360.3:c.1336-41C>T	NP_001005360.1:n.1336-41C>T
NM_001005362.3:c.1336-41C>T	NP_001005362.1:n.1336-41C>T
NM_004945.4:c.1336-41C>T	NP_004936.2:n.1336-41C>T