Canonical Allele Identifier: CA404048042

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793829G>C , CM000681.2:g.10793829G>C	GRCh38
NC_000019.9:g.10904505G>C , CM000681.1:g.10904505G>C	GRCh37
NC_000019.8:g.10765505G>C	NCBI36
NG_008792.1:g.80751G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.1102G>C MANE Select	NP_001005361.1:p.Glu368Gln
ENST00000389253.9:c.1102G>C MANE Select	ENSP00000373905.4:p.Glu368Gln
NM_001005360.2:c.1102G>C	NP_001005360.1:p.Glu368Gln
NM_001005360.3:c.1102G>C	NP_001005360.1:p.Glu368Gln
NM_001005361.2:c.1102G>C	NP_001005361.1:p.Glu368Gln
NM_001005362.2:c.1102G>C	NP_001005362.1:p.Glu368Gln
NM_001005362.3:c.1102G>C	NP_001005362.1:p.Glu368Gln
NM_001190716.1:c.1102G>C	NP_001177645.1:p.Glu368Gln
NM_001190716.2:c.1102G>C	NP_001177645.1:p.Glu368Gln
NM_004945.3:c.1102G>C	NP_004936.2:p.Glu368Gln
NM_004945.4:c.1102G>C	NP_004936.2:p.Glu368Gln
ENST00000355667.10:c.1102G>C	ENSP00000347890.6:p.Glu368Gln
ENST00000355667.11:c.1102G>C	ENSP00000347890.6:p.Glu368Gln
ENST00000359692.10:c.1102G>C	ENSP00000352721.6:p.Glu368Gln
ENST00000389253.8:c.1102G>C	ENSP00000373905.3:p.Glu368Gln
ENST00000408974.8:c.1102G>C	ENSP00000386192.3:p.Glu368Gln
ENST00000585892.5:c.1102G>C	ENSP00000468734.1:p.Glu368Gln
ENST00000587830.2:c.358G>C	ENSP00000466603.2:p.Glu120Gln
ENST00000591701.5:n.462G>C
ENST00000682285.1:n.1290G>C
ENST00000682524.1:n.1290G>C
ENST00000683738.1:n.1290G>C