Canonical Allele Identifier: CA9201409

Gene: DNM2

Linked Data

• ClinVar Variation Id: 390439
• ClinVar RCV Id: RCV000428870 ; RCV000704523
• dbSNP Id: rs767424969
• ExAC: 19:10934460 G / C
• gnomAD v2: 19-10934460-G-C
• gnomAD v3: 19-10823784-G-C
• gnomAD v4: 19-10823784-G-C
• MyVariant Identifiers: chr19:g.10934460G>C (hg19) ; chr19:g.10823784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10823784G>C , CM000681.2:g.10823784G>C	GRCh38
NC_000019.9:g.10934460G>C , CM000681.1:g.10934460G>C	GRCh37
NC_000019.8:g.10795460G>C	NCBI36
NG_008792.1:g.110706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1213-4G>C
ENST00000355667.11:c.1782-4G>C	ENSP00000347890.6:n.1782-4G>C
ENST00000389253.9:c.1782-4G>C MANE Select	ENSP00000373905.4:n.1782-4G>C
ENST00000355667.10:c.1782-4G>C	ENSP00000347890.6:n.1782-4G>C
ENST00000359692.10:c.1770-4G>C	ENSP00000352721.6:n.1770-4G>C
ENST00000389253.8:c.1782-4G>C	ENSP00000373905.3:n.1782-4G>C
ENST00000408974.8:c.1770-4G>C	ENSP00000386192.3:n.1770-4G>C
ENST00000585892.5:c.1782-4G>C	ENSP00000468734.1:n.1782-4G>C
ENST00000590787.1:n.3281-4G>C
ENST00000590806.5:n.3970-4G>C
ENST00000593203.1:n.561G>C
NM_001005360.2:c.1782-4G>C	NP_001005360.1:n.1782-4G>C
NM_001005361.2:c.1782-4G>C	NP_001005361.1:n.1782-4G>C
NM_001005362.2:c.1770-4G>C	NP_001005362.1:n.1770-4G>C
NM_001190716.1:c.1782-4G>C	NP_001177645.1:n.1782-4G>C
NM_004945.3:c.1770-4G>C	NP_004936.2:n.1770-4G>C
NM_001005361.3:c.1782-4G>C MANE Select	NP_001005361.1:n.1782-4G>C
NM_001190716.2:c.1782-4G>C	NP_001177645.1:n.1782-4G>C
NM_001005360.3:c.1782-4G>C	NP_001005360.1:n.1782-4G>C
NM_001005362.3:c.1770-4G>C	NP_001005362.1:n.1770-4G>C
NM_004945.4:c.1770-4G>C	NP_004936.2:n.1770-4G>C