Canonical Allele Identifier: CA16620726

Gene: DNM2

Linked Data

• ClinVar Variation Id: 418164
• ClinVar RCV Id: RCV000485589 ; RCV002221154
• dbSNP Id: rs1064793101
• MyVariant Identifiers: chr19:g.10904473C>T (hg19) ; chr19:g.10793797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793797C>T , CM000681.2:g.10793797C>T	GRCh38
NC_000019.9:g.10904473C>T , CM000681.1:g.10904473C>T	GRCh37
NC_000019.8:g.10765473C>T	NCBI36
NG_008792.1:g.80719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1258C>T
ENST00000682524.1:n.1258C>T
ENST00000683738.1:n.1258C>T
ENST00000355667.11:c.1070C>T	ENSP00000347890.6:p.Ser357Phe
ENST00000389253.9:c.1070C>T MANE Select	ENSP00000373905.4:p.Ser357Phe
ENST00000355667.10:c.1070C>T	ENSP00000347890.6:p.Ser357Phe
ENST00000359692.10:c.1070C>T	ENSP00000352721.6:p.Ser357Phe
ENST00000389253.8:c.1070C>T	ENSP00000373905.3:p.Ser357Phe
ENST00000408974.8:c.1070C>T	ENSP00000386192.3:p.Ser357Phe
ENST00000585892.5:c.1070C>T	ENSP00000468734.1:p.Ser357Phe
ENST00000587830.2:c.326C>T	ENSP00000466603.2:p.Ser109Phe
ENST00000591701.5:n.430C>T
NM_001005360.2:c.1070C>T	NP_001005360.1:p.Ser357Phe
NM_001005361.2:c.1070C>T	NP_001005361.1:p.Ser357Phe
NM_001005362.2:c.1070C>T	NP_001005362.1:p.Ser357Phe
NM_001190716.1:c.1070C>T	NP_001177645.1:p.Ser357Phe
NM_004945.3:c.1070C>T	NP_004936.2:p.Ser357Phe
NM_001005361.3:c.1070C>T MANE Select	NP_001005361.1:p.Ser357Phe
NM_001190716.2:c.1070C>T	NP_001177645.1:p.Ser357Phe
NM_001005360.3:c.1070C>T	NP_001005360.1:p.Ser357Phe
NM_001005362.3:c.1070C>T	NP_001005362.1:p.Ser357Phe
NM_004945.4:c.1070C>T	NP_004936.2:p.Ser357Phe