Canonical Allele Identifier: CA9201118

Gene: DNM2

Linked Data

• dbSNP Id: rs765698901
• ExAC: 19:10909139 G / C
• gnomAD v2: 19-10909139-G-C
• gnomAD v3: 19-10798463-G-C
• gnomAD v4: 19-10798463-G-C
• MyVariant Identifiers: chr19:g.10909139G>C (hg19) ; chr19:g.10798463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10798463G>C , CM000681.2:g.10798463G>C	GRCh38
NC_000019.9:g.10909139G>C , CM000681.1:g.10909139G>C	GRCh37
NC_000019.8:g.10770139G>C	NCBI36
NG_008792.1:g.85385G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.1524-23G>C
ENST00000683738.1:n.1663-23G>C
ENST00000355667.11:c.1336-23G>C	ENSP00000347890.6:n.1336-23G>C
ENST00000389253.9:c.1336-23G>C MANE Select	ENSP00000373905.4:n.1336-23G>C
ENST00000355667.10:c.1336-23G>C	ENSP00000347890.6:n.1336-23G>C
ENST00000359692.10:c.1336-23G>C	ENSP00000352721.6:n.1336-23G>C
ENST00000389253.8:c.1336-23G>C	ENSP00000373905.3:n.1336-23G>C
ENST00000408974.8:c.1336-23G>C	ENSP00000386192.3:n.1336-23G>C
ENST00000585892.5:c.1336-23G>C	ENSP00000468734.1:n.1336-23G>C
ENST00000587329.1:n.77G>C
ENST00000587830.2:c.592-23G>C	ENSP00000466603.2:n.592-23G>C
ENST00000593220.1:n.485-23G>C
NM_001005360.2:c.1336-23G>C	NP_001005360.1:n.1336-23G>C
NM_001005361.2:c.1336-23G>C	NP_001005361.1:n.1336-23G>C
NM_001005362.2:c.1336-23G>C	NP_001005362.1:n.1336-23G>C
NM_001190716.1:c.1336-23G>C	NP_001177645.1:n.1336-23G>C
NM_004945.3:c.1336-23G>C	NP_004936.2:n.1336-23G>C
NM_001005361.3:c.1336-23G>C MANE Select	NP_001005361.1:n.1336-23G>C
NM_001190716.2:c.1336-23G>C	NP_001177645.1:n.1336-23G>C
NM_001005360.3:c.1336-23G>C	NP_001005360.1:n.1336-23G>C
NM_001005362.3:c.1336-23G>C	NP_001005362.1:n.1336-23G>C
NM_004945.4:c.1336-23G>C	NP_004936.2:n.1336-23G>C