Canonical Allele Identifier: CA2582342472

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 2584791
• ClinVar RCV Id: RCV003340690
• gnomAD v4: 11-103220624-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103220627del , CM000673.2:g.103220627del	GRCh38
NC_000011.9:g.103091356del , CM000673.1:g.103091356del	GRCh37
NC_000011.8:g.102596566del	NCBI36
NG_016423.1:g.116197del
NG_016423.2:g.116197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.8951del MANE Plus Clinical	ENSP00000497174.1:p.Leu2984Ter
ENST00000375735.7:c.8951del MANE Select	ENSP00000364887.2:p.Leu2984Ter
ENST00000650373.1:c.8951del	ENSP00000497174.1:p.Leu2984Ter
ENST00000334267.11:c.2205+86208del	ENSP00000334021.7:n.2205+86208del
ENST00000375735.6:c.8951del	ENSP00000364887.2:p.Leu2984Ter
ENST00000398093.7:c.8951del	ENSP00000381167.3:p.Leu2984Ter
NM_001080463.1:c.8951del	NP_001073932.1:p.Leu2984Ter
NM_001377.2:c.8951del	NP_001368.2:p.Leu2984Ter
XM_006718903.2:c.8930del	XP_006718966.1:p.Leu2977Ter
XM_017018291.1:c.8951del	XP_016873780.1:p.Leu2984Ter
XM_017018292.1:c.8333del	XP_016873781.1:p.Leu2778Ter
NM_001377.3:c.8951del MANE Select	NP_001368.2:p.Leu2984Ter
NM_001080463.2:c.8951del MANE Plus Clinical	NP_001073932.1:p.Leu2984Ter