Canonical Allele Identifier: CA404040449

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10820047T>C , CM000681.2:g.10820047T>C	GRCh38
NC_000019.9:g.10930723T>C , CM000681.1:g.10930723T>C	GRCh37
NC_000019.8:g.10791723T>C	NCBI36
NG_008792.1:g.106969T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.1739T>C MANE Select	NP_001005361.1:p.Met580Thr
ENST00000389253.9:c.1739T>C MANE Select	ENSP00000373905.4:p.Met580Thr
NM_001005360.2:c.1739T>C	NP_001005360.1:p.Met580Thr
NM_001005360.3:c.1739T>C	NP_001005360.1:p.Met580Thr
NM_001005361.2:c.1739T>C	NP_001005361.1:p.Met580Thr
NM_001005362.2:c.1727T>C	NP_001005362.1:p.Met576Thr
NM_001005362.3:c.1727T>C	NP_001005362.1:p.Met576Thr
NM_001190716.1:c.1739T>C	NP_001177645.1:p.Met580Thr
NM_001190716.2:c.1739T>C	NP_001177645.1:p.Met580Thr
NM_004945.3:c.1727T>C	NP_004936.2:p.Met576Thr
NM_004945.4:c.1727T>C	NP_004936.2:p.Met576Thr
ENST00000355667.10:c.1739T>C	ENSP00000347890.6:p.Met580Thr
ENST00000355667.11:c.1739T>C	ENSP00000347890.6:p.Met580Thr
ENST00000359692.10:c.1727T>C	ENSP00000352721.6:p.Met576Thr
ENST00000389253.8:c.1739T>C	ENSP00000373905.3:p.Met580Thr
ENST00000408974.8:c.1727T>C	ENSP00000386192.3:p.Met576Thr
ENST00000585892.5:c.1739T>C	ENSP00000468734.1:p.Met580Thr
ENST00000590787.1:n.3238T>C
ENST00000590806.5:n.3927T>C
ENST00000681972.1:n.1170T>C