Canonical Allele Identifier: CA10584604

Gene: DNM2

Linked Data

• ClinVar Variation Id: 245905
• ClinVar RCV Id: RCV000236677
• dbSNP Id: rs121909089
• MyVariant Identifiers: chr19:g.10904509G>T (hg19) ; chr19:g.10793833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793833G>T , CM000681.2:g.10793833G>T	GRCh38
NC_000019.9:g.10904509G>T , CM000681.1:g.10904509G>T	GRCh37
NC_000019.8:g.10765509G>T	NCBI36
NG_008792.1:g.80755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1294G>T
ENST00000682524.1:n.1294G>T
ENST00000683738.1:n.1294G>T
ENST00000355667.11:c.1106G>T	ENSP00000347890.6:p.Arg369Leu
ENST00000389253.9:c.1106G>T MANE Select	ENSP00000373905.4:p.Arg369Leu
ENST00000355667.10:c.1106G>T	ENSP00000347890.6:p.Arg369Leu
ENST00000359692.10:c.1106G>T	ENSP00000352721.6:p.Arg369Leu
ENST00000389253.8:c.1106G>T	ENSP00000373905.3:p.Arg369Leu
ENST00000408974.8:c.1106G>T	ENSP00000386192.3:p.Arg369Leu
ENST00000585892.5:c.1106G>T	ENSP00000468734.1:p.Arg369Leu
ENST00000587830.2:c.362G>T	ENSP00000466603.2:p.Arg121Leu
ENST00000591701.5:n.466G>T
NM_001005360.2:c.1106G>T	NP_001005360.1:p.Arg369Leu
NM_001005361.2:c.1106G>T	NP_001005361.1:p.Arg369Leu
NM_001005362.2:c.1106G>T	NP_001005362.1:p.Arg369Leu
NM_001190716.1:c.1106G>T	NP_001177645.1:p.Arg369Leu
NM_004945.3:c.1106G>T	NP_004936.2:p.Arg369Leu
NM_001005361.3:c.1106G>T MANE Select	NP_001005361.1:p.Arg369Leu
NM_001190716.2:c.1106G>T	NP_001177645.1:p.Arg369Leu
NM_001005360.3:c.1106G>T	NP_001005360.1:p.Arg369Leu
NM_001005362.3:c.1106G>T	NP_001005362.1:p.Arg369Leu
NM_004945.4:c.1106G>T	NP_004936.2:p.Arg369Leu