Canonical Allele Identifier: CA172112

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158519
• ClinVar RCV Id: RCV000145909 ; RCV002515958
• dbSNP Id: rs587783597
• MyVariant Identifiers: chr19:g.10934544T>C (hg19) ; chr19:g.10823868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10823868T>C , CM000681.2:g.10823868T>C	GRCh38
NC_000019.9:g.10934544T>C , CM000681.1:g.10934544T>C	GRCh37
NC_000019.8:g.10795544T>C	NCBI36
NG_008792.1:g.110790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1293T>C
ENST00000355667.11:c.1862T>C	ENSP00000347890.6:p.Leu621Pro
ENST00000389253.9:c.1862T>C MANE Select	ENSP00000373905.4:p.Leu621Pro
ENST00000355667.10:c.1862T>C	ENSP00000347890.6:p.Leu621Pro
ENST00000359692.10:c.1850T>C	ENSP00000352721.6:p.Leu617Pro
ENST00000389253.8:c.1862T>C	ENSP00000373905.3:p.Leu621Pro
ENST00000408974.8:c.1850T>C	ENSP00000386192.3:p.Leu617Pro
ENST00000585892.5:c.1862T>C	ENSP00000468734.1:p.Leu621Pro
ENST00000590787.1:n.3361T>C
ENST00000590806.5:n.4050T>C
ENST00000593203.1:n.645T>C
NM_001005360.2:c.1862T>C	NP_001005360.1:p.Leu621Pro
NM_001005361.2:c.1862T>C	NP_001005361.1:p.Leu621Pro
NM_001005362.2:c.1850T>C	NP_001005362.1:p.Leu617Pro
NM_001190716.1:c.1862T>C	NP_001177645.1:p.Leu621Pro
NM_004945.3:c.1850T>C	NP_004936.2:p.Leu617Pro
NM_001005361.3:c.1862T>C MANE Select	NP_001005361.1:p.Leu621Pro
NM_001190716.2:c.1862T>C	NP_001177645.1:p.Leu621Pro
NM_001005360.3:c.1862T>C	NP_001005360.1:p.Leu621Pro
NM_001005362.3:c.1850T>C	NP_001005362.1:p.Leu617Pro
NM_004945.4:c.1850T>C	NP_004936.2:p.Leu617Pro