Canonical Allele Identifier: CA404045169

Gene: DNM2

Linked Data

• ClinVar Variation Id: 488952
• ClinVar RCV Id: RCV000579306
• dbSNP Id: rs1555707649
• COSMIC: COSM4073963 ; COSM4073964 ; COSM4073965
• MyVariant Identifiers: chr19:g.10893683A>T (hg19) ; chr19:g.10783007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10783007A>T , CM000681.2:g.10783007A>T	GRCh38
NC_000019.9:g.10893683A>T , CM000681.1:g.10893683A>T	GRCh37
NC_000019.8:g.10754683A>T	NCBI36
NG_008792.1:g.69929A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.924A>T
ENST00000682524.1:n.924A>T
ENST00000683738.1:n.924A>T
ENST00000355667.11:c.736A>T	ENSP00000347890.6:p.Lys246Ter
ENST00000389253.9:c.736A>T MANE Select	ENSP00000373905.4:p.Lys246Ter
ENST00000355667.10:c.736A>T	ENSP00000347890.6:p.Lys246Ter
ENST00000359692.10:c.736A>T	ENSP00000352721.6:p.Lys246Ter
ENST00000389253.8:c.736A>T	ENSP00000373905.3:p.Lys246Ter
ENST00000408974.8:c.736A>T	ENSP00000386192.3:p.Lys246Ter
ENST00000585892.5:c.736A>T	ENSP00000468734.1:p.Lys246Ter
ENST00000587485.1:n.242A>T
ENST00000591118.1:n.470A>T
ENST00000591701.5:n.96A>T
NM_001005360.2:c.736A>T	NP_001005360.1:p.Lys246Ter
NM_001005361.2:c.736A>T	NP_001005361.1:p.Lys246Ter
NM_001005362.2:c.736A>T	NP_001005362.1:p.Lys246Ter
NM_001190716.1:c.736A>T	NP_001177645.1:p.Lys246Ter
NM_004945.3:c.736A>T	NP_004936.2:p.Lys246Ter
NM_001005361.3:c.736A>T MANE Select	NP_001005361.1:p.Lys246Ter
NM_001190716.2:c.736A>T	NP_001177645.1:p.Lys246Ter
NM_001005360.3:c.736A>T	NP_001005360.1:p.Lys246Ter
NM_001005362.3:c.736A>T	NP_001005362.1:p.Lys246Ter
NM_004945.4:c.736A>T	NP_004936.2:p.Lys246Ter