Canonical Allele Identifier: CA305272246

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10830358G>T , CM000681.2:g.10830358G>T	GRCh38
NC_000019.9:g.10941034G>T , CM000681.1:g.10941034G>T	GRCh37
NC_000019.8:g.10802034G>T	NCBI36
NG_008792.1:g.117280G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.2523G>T MANE Select	NP_001005361.1:p.Gly841=
ENST00000389253.9:c.2523G>T MANE Select	ENSP00000373905.4:p.Gly841=
NM_001005360.2:c.2523G>T	NP_001005360.1:p.Gly841=
NM_001005360.3:c.2523G>T	NP_001005360.1:p.Gly841=
NM_001005361.2:c.2523G>T	NP_001005361.1:p.Gly841=
NM_001005362.2:c.2511G>T	NP_001005362.1:p.Gly837=
NM_001005362.3:c.2511G>T	NP_001005362.1:p.Gly837=
NM_001190716.1:c.2523G>T	NP_001177645.1:p.Gly841=
NM_001190716.2:c.2523G>T	NP_001177645.1:p.Gly841=
NM_004945.3:c.2511G>T	NP_004936.2:p.Gly837=
NM_004945.4:c.2511G>T	NP_004936.2:p.Gly837=
ENST00000355667.10:c.2523G>T	ENSP00000347890.6:p.Gly841=
ENST00000355667.11:c.2523G>T	ENSP00000347890.6:p.Gly841=
ENST00000359692.10:c.2511G>T	ENSP00000352721.6:p.Gly837=
ENST00000389253.8:c.2523G>T	ENSP00000373905.3:p.Gly841=
ENST00000408974.8:c.2511G>T	ENSP00000386192.3:p.Gly837=
ENST00000585892.5:c.2523G>T	ENSP00000468734.1:p.Gly841=
ENST00000589106.1:c.389G>T
ENST00000590806.5:n.4711G>T
ENST00000591818.1:c.21G>T	ENSP00000466621.1:p.Gly7=
ENST00000593203.1:n.1306G>T
ENST00000681972.1:n.1954G>T