Canonical Allele Identifier: CA147031

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 93529
• ClinVar RCV Id: RCV000079444 ; RCV000290279 ; RCV000384618 ; RCV001094017
• dbSNP Id: rs586592
• ExAC: 11:103058126 C / T
• gnomAD v2: 11-103058126-C-T
• gnomAD v3: 11-103187397-C-T
• gnomAD v4: 11-103187397-C-T
• MyVariant Identifiers: chr11:g.103058126C>T (hg19) ; chr11:g.103187397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103187397C>T , CM000673.2:g.103187397C>T	GRCh38
NC_000011.9:g.103058126C>T , CM000673.1:g.103058126C>T	GRCh37
NC_000011.8:g.102563336C>T	NCBI36
NG_016423.1:g.82967C>T
NG_016423.2:g.82967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.6951C>T MANE Plus Clinical	ENSP00000497174.1:p.His2317=
ENST00000375735.7:c.6951C>T MANE Select	ENSP00000364887.2:p.His2317=
ENST00000649323.1:c.*4496C>T	ENSP00000497581.1:n.*4496C>T
ENST00000650373.1:c.6951C>T	ENSP00000497174.1:p.His2317=
ENST00000334267.11:c.2205+52978C>T	ENSP00000334021.7:n.2205+52978C>T
ENST00000375735.6:c.6951C>T	ENSP00000364887.2:p.His2317=
ENST00000398093.7:c.6951C>T	ENSP00000381167.3:p.His2317=
NM_001080463.1:c.6951C>T	NP_001073932.1:p.His2317=
NM_001377.2:c.6951C>T	NP_001368.2:p.His2317=
XM_006718903.2:c.6951C>T	XP_006718966.1:p.His2317=
XM_017018291.1:c.6951C>T	XP_016873780.1:p.His2317=
XM_017018292.1:c.6333C>T	XP_016873781.1:p.His2111=
XM_017018293.1:c.6951C>T	XP_016873782.1:p.His2317=
NM_001377.3:c.6951C>T MANE Select	NP_001368.2:p.His2317=
NM_001080463.2:c.6951C>T MANE Plus Clinical	NP_001073932.1:p.His2317=