Canonical Allele Identifier: CA172106
Gene: DNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10823777C>T , CM000681.2:g.10823777C>T GRCh38
NC_000019.9:g.10934453C>T , CM000681.1:g.10934453C>T GRCh37
NC_000019.8:g.10795453C>T NCBI36
NG_008792.1:g.110699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681972.1:n.1213-11C>T
ENST00000355667.11:c.1782-11C>T ENSP00000347890.6:n.1782-11C>T
ENST00000389253.9:c.1782-11C>T MANE Select ENSP00000373905.4:n.1782-11C>T
ENST00000355667.10:c.1782-11C>T ENSP00000347890.6:n.1782-11C>T
ENST00000359692.10:c.1770-11C>T ENSP00000352721.6:n.1770-11C>T
ENST00000389253.8:c.1782-11C>T ENSP00000373905.3:n.1782-11C>T
ENST00000408974.8:c.1770-11C>T ENSP00000386192.3:n.1770-11C>T
ENST00000585892.5:c.1782-11C>T ENSP00000468734.1:n.1782-11C>T
ENST00000590787.1:n.3281-11C>T
ENST00000590806.5:n.3970-11C>T
ENST00000593203.1:n.554C>T
NM_001005360.2:c.1782-11C>T NP_001005360.1:n.1782-11C>T
NM_001005361.2:c.1782-11C>T NP_001005361.1:n.1782-11C>T
NM_001005362.2:c.1770-11C>T NP_001005362.1:n.1770-11C>T
NM_001190716.1:c.1782-11C>T NP_001177645.1:n.1782-11C>T
NM_004945.3:c.1770-11C>T NP_004936.2:n.1770-11C>T
NM_001005361.3:c.1782-11C>T MANE Select NP_001005361.1:n.1782-11C>T
NM_001190716.2:c.1782-11C>T NP_001177645.1:n.1782-11C>T
NM_001005360.3:c.1782-11C>T NP_001005360.1:n.1782-11C>T
NM_001005362.3:c.1770-11C>T NP_001005362.1:n.1770-11C>T
NM_004945.4:c.1770-11C>T NP_004936.2:n.1770-11C>T