Canonical Allele Identifier: CA172137

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158529
• ClinVar RCV Id: RCV000145921 ; RCV000756033 ; RCV000802315 ; RCV000280887 ; RCV002512574
• dbSNP Id: rs150613209
• ExAC: 19:10897348 G / A
• gnomAD v2: 19-10897348-G-A
• gnomAD v3: 19-10786672-G-A
• gnomAD v4: 19-10786672-G-A
• MyVariant Identifiers: chr19:g.10897348G>A (hg19) ; chr19:g.10786672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10786672G>A , CM000681.2:g.10786672G>A	GRCh38
NC_000019.9:g.10897348G>A , CM000681.1:g.10897348G>A	GRCh37
NC_000019.8:g.10758348G>A	NCBI36
NG_008792.1:g.73594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1146G>A
ENST00000682524.1:n.1146G>A
ENST00000683738.1:n.1146G>A
ENST00000355667.11:c.958G>A	ENSP00000347890.6:p.Asp320Asn
ENST00000389253.9:c.958G>A MANE Select	ENSP00000373905.4:p.Asp320Asn
ENST00000355667.10:c.958G>A	ENSP00000347890.6:p.Asp320Asn
ENST00000359692.10:c.958G>A	ENSP00000352721.6:p.Asp320Asn
ENST00000389253.8:c.958G>A	ENSP00000373905.3:p.Asp320Asn
ENST00000408974.8:c.958G>A	ENSP00000386192.3:p.Asp320Asn
ENST00000585892.5:c.958G>A	ENSP00000468734.1:p.Asp320Asn
ENST00000586130.1:n.243G>A
ENST00000587485.1:n.464G>A
ENST00000587830.2:c.214G>A	ENSP00000466603.2:p.Asp72Asn
ENST00000591701.5:n.318G>A
NM_001005360.2:c.958G>A	NP_001005360.1:p.Asp320Asn
NM_001005361.2:c.958G>A	NP_001005361.1:p.Asp320Asn
NM_001005362.2:c.958G>A	NP_001005362.1:p.Asp320Asn
NM_001190716.1:c.958G>A	NP_001177645.1:p.Asp320Asn
NM_004945.3:c.958G>A	NP_004936.2:p.Asp320Asn
NM_001005361.3:c.958G>A MANE Select	NP_001005361.1:p.Asp320Asn
NM_001190716.2:c.958G>A	NP_001177645.1:p.Asp320Asn
NM_001005360.3:c.958G>A	NP_001005360.1:p.Asp320Asn
NM_001005362.3:c.958G>A	NP_001005362.1:p.Asp320Asn
NM_004945.4:c.958G>A	NP_004936.2:p.Asp320Asn