Canonical Allele Identifier: CA2582429358

Gene: DNM2

Linked Data

• gnomAD v4: 19-10772371-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10772371G>T , CM000681.2:g.10772371G>T	GRCh38
NC_000019.9:g.10883047G>T , CM000681.1:g.10883047G>T	GRCh37
NC_000019.8:g.10744047G>T	NCBI36
NG_008792.1:g.59293G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.424-108G>T
ENST00000682524.1:n.424-108G>T
ENST00000683738.1:n.424-108G>T
ENST00000355667.11:c.236-108G>T	ENSP00000347890.6:n.236-108G>T
ENST00000389253.9:c.236-108G>T MANE Select	ENSP00000373905.4:n.236-108G>T
ENST00000355667.10:c.236-108G>T	ENSP00000347890.6:n.236-108G>T
ENST00000359692.10:c.236-108G>T	ENSP00000352721.6:n.236-108G>T
ENST00000389253.8:c.236-108G>T	ENSP00000373905.3:n.236-108G>T
ENST00000408974.8:c.236-108G>T	ENSP00000386192.3:n.236-108G>T
ENST00000585892.5:c.236-108G>T	ENSP00000468734.1:n.236-108G>T
ENST00000586939.5:c.-239-108G>T	ENSP00000467430.1:n.-239-108G>T
ENST00000587991.5:n.311-108G>T
ENST00000591266.1:n.519-108G>T
ENST00000591819.1:n.159-108G>T
NM_001005360.2:c.236-108G>T	NP_001005360.1:n.236-108G>T
NM_001005361.2:c.236-108G>T	NP_001005361.1:n.236-108G>T
NM_001005362.2:c.236-108G>T	NP_001005362.1:n.236-108G>T
NM_001190716.1:c.236-108G>T	NP_001177645.1:n.236-108G>T
NM_004945.3:c.236-108G>T	NP_004936.2:n.236-108G>T
NM_001005361.3:c.236-108G>T MANE Select	NP_001005361.1:n.236-108G>T
NM_001190716.2:c.236-108G>T	NP_001177645.1:n.236-108G>T
NM_001005360.3:c.236-108G>T	NP_001005360.1:n.236-108G>T
NM_001005362.3:c.236-108G>T	NP_001005362.1:n.236-108G>T
NM_004945.4:c.236-108G>T	NP_004936.2:n.236-108G>T