Canonical Allele Identifier: CA9200795
Gene: DNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10775719C>T , CM000681.2:g.10775719C>T GRCh38
NC_000019.9:g.10886395C>T , CM000681.1:g.10886395C>T GRCh37
NC_000019.8:g.10747395C>T NCBI36
NG_008792.1:g.62641C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005361.3:c.402C>T MANE Select NP_001005361.1:p.Leu134=
ENST00000389253.9:c.402C>T MANE Select ENSP00000373905.4:p.Leu134=
NM_001005360.2:c.402C>T NP_001005360.1:p.Leu134=
NM_001005360.3:c.402C>T NP_001005360.1:p.Leu134=
NM_001005361.2:c.402C>T NP_001005361.1:p.Leu134=
NM_001005362.2:c.402C>T NP_001005362.1:p.Leu134=
NM_001005362.3:c.402C>T NP_001005362.1:p.Leu134=
NM_001190716.1:c.402C>T NP_001177645.1:p.Leu134=
NM_001190716.2:c.402C>T NP_001177645.1:p.Leu134=
NM_004945.3:c.402C>T NP_004936.2:p.Leu134=
NM_004945.4:c.402C>T NP_004936.2:p.Leu134=
ENST00000355667.10:c.402C>T ENSP00000347890.6:p.Leu134=
ENST00000355667.11:c.402C>T ENSP00000347890.6:p.Leu134=
ENST00000359692.10:c.402C>T ENSP00000352721.6:p.Leu134=
ENST00000389253.8:c.402C>T ENSP00000373905.3:p.Leu134=
ENST00000408974.8:c.402C>T ENSP00000386192.3:p.Leu134=
ENST00000585892.5:c.402C>T ENSP00000468734.1:p.Leu134=
ENST00000586939.5:c.-73C>T ENSP00000467430.1:n.-73C>T
ENST00000587991.5:n.477C>T
ENST00000591819.1:n.325C>T
ENST00000682285.1:n.590C>T
ENST00000682524.1:n.590C>T
ENST00000683738.1:n.590C>T