Canonical Allele Identifier: CA941655180

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1858937930
• gnomAD v3: 11-103125365-G-GT
• gnomAD v4: 11-103125365-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125365_103125366insT , CM000673.2:g.103125365_103125366insT	GRCh38
NC_000011.9:g.102996094_102996095insT , CM000673.1:g.102996094_102996095insT	GRCh37
NC_000011.8:g.102501304_102501305insT	NCBI36
NG_016423.1:g.20935_20936insT
NG_016423.2:g.20935_20936insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1857+70_1857+71insT MANE Plus Clinical	ENSP00000497174.1:n.1857+70_1857+71insT
ENST00000375735.7:c.1857+70_1857+71insT MANE Select	ENSP00000364887.2:n.1857+70_1857+71insT
ENST00000648198.1:c.1857+70_1857+71insT	ENSP00000497329.1:n.1857+70_1857+71insT
ENST00000649323.1:c.1857+70_1857+71insT	ENSP00000497581.1:n.1857+70_1857+71insT
ENST00000650373.1:c.1857+70_1857+71insT	ENSP00000497174.1:n.1857+70_1857+71insT
ENST00000334267.11:c.1857+70_1857+71insT	ENSP00000334021.7:n.1857+70_1857+71insT
ENST00000375735.6:c.1857+70_1857+71insT	ENSP00000364887.2:n.1857+70_1857+71insT
ENST00000398093.7:c.1857+70_1857+71insT	ENSP00000381167.3:n.1857+70_1857+71insT
NM_001080463.1:c.1857+70_1857+71insT	NP_001073932.1:n.1857+70_1857+71insT
NM_001377.2:c.1857+70_1857+71insT	NP_001368.2:n.1857+70_1857+71insT
XM_006718903.2:c.1857+70_1857+71insT	XP_006718966.1:n.1857+70_1857+71insT
XM_017018291.1:c.1857+70_1857+71insT	XP_016873780.1:n.1857+70_1857+71insT
XM_017018292.1:c.1239+70_1239+71insT	XP_016873781.1:n.1239+70_1239+71insT
XM_017018293.1:c.1857+70_1857+71insT	XP_016873782.1:n.1857+70_1857+71insT
NM_001377.3:c.1857+70_1857+71insT MANE Select	NP_001368.2:n.1857+70_1857+71insT
NM_001080463.2:c.1857+70_1857+71insT MANE Plus Clinical	NP_001073932.1:n.1857+70_1857+71insT