Canonical Allele Identifier: CA6253373

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 238270
• ClinVar RCV Id: RCV000231556 ; RCV000406282 ; RCV000726077 ; RCV000735390 ; RCV001106985
• dbSNP Id: rs189806840
• ExAC: 11:103026168 C / A
• gnomAD v2: 11-103026168-C-A
• gnomAD v3: 11-103155439-C-A
• gnomAD v4: 11-103155439-C-A
• MyVariant Identifiers: chr11:g.103026168C>A (hg19) ; chr11:g.103155439C>A (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103155439C>A , CM000673.2:g.103155439C>A	GRCh38
NC_000011.9:g.103026168C>A , CM000673.1:g.103026168C>A	GRCh37
NC_000011.8:g.102531378C>A	NCBI36
NG_016423.1:g.51009C>A
NG_016423.2:g.51009C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.3682C>A MANE Plus Clinical	ENSP00000497174.1:p.Leu1228Ile
ENST00000375735.7:c.3682C>A MANE Select	ENSP00000364887.2:p.Leu1228Ile
ENST00000648198.1:c.3700C>A	ENSP00000497329.1:p.Leu1234Ile
ENST00000649323.1:c.*1227C>A	ENSP00000497581.1:n.*1227C>A
ENST00000650373.1:c.3682C>A	ENSP00000497174.1:p.Leu1228Ile
ENST00000334267.11:c.2205+21020C>A	ENSP00000334021.7:n.2205+21020C>A
ENST00000375735.6:c.3682C>A	ENSP00000364887.2:p.Leu1228Ile
ENST00000398093.7:c.3682C>A	ENSP00000381167.3:p.Leu1228Ile
NM_001080463.1:c.3682C>A	NP_001073932.1:p.Leu1228Ile
NM_001377.2:c.3682C>A	NP_001368.2:p.Leu1228Ile
XM_006718903.2:c.3682C>A	XP_006718966.1:p.Leu1228Ile
XM_017018291.1:c.3682C>A	XP_016873780.1:p.Leu1228Ile
XM_017018292.1:c.3064C>A	XP_016873781.1:p.Leu1022Ile
XM_017018293.1:c.3682C>A	XP_016873782.1:p.Leu1228Ile
NM_001377.3:c.3682C>A MANE Select	NP_001368.2:p.Leu1228Ile
NM_001080463.2:c.3682C>A MANE Plus Clinical	NP_001073932.1:p.Leu1228Ile