Canonical Allele Identifier: CA9200963

Gene: DNM2

Linked Data

• dbSNP Id: rs375069966
• ExAC: 19:10904375 G / T
• gnomAD v2: 19-10904375-G-T
• MyVariant Identifiers: chr19:g.10904375G>T (hg19) ; chr19:g.10793699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793699G>T , CM000681.2:g.10793699G>T	GRCh38
NC_000019.9:g.10904375G>T , CM000681.1:g.10904375G>T	GRCh37
NC_000019.8:g.10765375G>T	NCBI36
NG_008792.1:g.80621G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.1181-21G>T
ENST00000682524.1:n.1181-21G>T
ENST00000683738.1:n.1181-21G>T
ENST00000355667.11:c.993-21G>T	ENSP00000347890.6:n.993-21G>T
ENST00000389253.9:c.993-21G>T MANE Select	ENSP00000373905.4:n.993-21G>T
ENST00000355667.10:c.993-21G>T	ENSP00000347890.6:n.993-21G>T
ENST00000359692.10:c.993-21G>T	ENSP00000352721.6:n.993-21G>T
ENST00000389253.8:c.993-21G>T	ENSP00000373905.3:n.993-21G>T
ENST00000408974.8:c.993-21G>T	ENSP00000386192.3:n.993-21G>T
ENST00000585892.5:c.993-21G>T	ENSP00000468734.1:n.993-21G>T
ENST00000587485.1:n.499-21G>T
ENST00000587830.2:c.249-21G>T	ENSP00000466603.2:n.249-21G>T
ENST00000591701.5:n.353-21G>T
NM_001005360.2:c.993-21G>T	NP_001005360.1:n.993-21G>T
NM_001005361.2:c.993-21G>T	NP_001005361.1:n.993-21G>T
NM_001005362.2:c.993-21G>T	NP_001005362.1:n.993-21G>T
NM_001190716.1:c.993-21G>T	NP_001177645.1:n.993-21G>T
NM_004945.3:c.993-21G>T	NP_004936.2:n.993-21G>T
NM_001005361.3:c.993-21G>T MANE Select	NP_001005361.1:n.993-21G>T
NM_001190716.2:c.993-21G>T	NP_001177645.1:n.993-21G>T
NM_001005360.3:c.993-21G>T	NP_001005360.1:n.993-21G>T
NM_001005362.3:c.993-21G>T	NP_001005362.1:n.993-21G>T
NM_004945.4:c.993-21G>T	NP_004936.2:n.993-21G>T