Canonical Allele Identifier: CA404041487

Gene: DNM2

Linked Data

• dbSNP Id: rs1218016077
• gnomAD v3: 19-10772499-T-C
• gnomAD v4: 19-10772499-T-C
• MyVariant Identifiers: chr19:g.10883175T>C (hg19) ; chr19:g.10772499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10772499T>C , CM000681.2:g.10772499T>C	GRCh38
NC_000019.9:g.10883175T>C , CM000681.1:g.10883175T>C	GRCh37
NC_000019.8:g.10744175T>C	NCBI36
NG_008792.1:g.59421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.444T>C
ENST00000682524.1:n.444T>C
ENST00000683738.1:n.444T>C
ENST00000355667.11:c.256T>C	ENSP00000347890.6:p.Cys86Arg
ENST00000389253.9:c.256T>C MANE Select	ENSP00000373905.4:p.Cys86Arg
ENST00000355667.10:c.256T>C	ENSP00000347890.6:p.Cys86Arg
ENST00000359692.10:c.256T>C	ENSP00000352721.6:p.Cys86Arg
ENST00000389253.8:c.256T>C	ENSP00000373905.3:p.Cys86Arg
ENST00000408974.8:c.256T>C	ENSP00000386192.3:p.Cys86Arg
ENST00000585892.5:c.256T>C	ENSP00000468734.1:p.Cys86Arg
ENST00000586939.5:c.-219T>C	ENSP00000467430.1:n.-219T>C
ENST00000587991.5:n.331T>C
ENST00000591266.1:n.539T>C
ENST00000591819.1:n.179T>C
NM_001005360.2:c.256T>C	NP_001005360.1:p.Cys86Arg
NM_001005361.2:c.256T>C	NP_001005361.1:p.Cys86Arg
NM_001005362.2:c.256T>C	NP_001005362.1:p.Cys86Arg
NM_001190716.1:c.256T>C	NP_001177645.1:p.Cys86Arg
NM_004945.3:c.256T>C	NP_004936.2:p.Cys86Arg
NM_001005361.3:c.256T>C MANE Select	NP_001005361.1:p.Cys86Arg
NM_001190716.2:c.256T>C	NP_001177645.1:p.Cys86Arg
NM_001005360.3:c.256T>C	NP_001005360.1:p.Cys86Arg
NM_001005362.3:c.256T>C	NP_001005362.1:p.Cys86Arg
NM_004945.4:c.256T>C	NP_004936.2:p.Cys86Arg