Canonical Allele Identifier: CA382263336

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103143287A>G , CM000673.2:g.103143287A>G	GRCh38
NC_000011.9:g.103014016A>G , CM000673.1:g.103014016A>G	GRCh37
NC_000011.8:g.102519226A>G	NCBI36
NG_016423.1:g.38857A>G
NG_016423.2:g.38857A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.2594A>G MANE Select	NP_001368.2:p.Gln865Arg
ENST00000375735.7:c.2594A>G MANE Select	ENSP00000364887.2:p.Gln865Arg
NM_001080463.2:c.2594A>G MANE Plus Clinical	NP_001073932.1:p.Gln865Arg
ENST00000650373.2:c.2594A>G MANE Plus Clinical	ENSP00000497174.1:p.Gln865Arg
NM_001080463.1:c.2594A>G	NP_001073932.1:p.Gln865Arg
NM_001377.2:c.2594A>G	NP_001368.2:p.Gln865Arg
ENST00000334267.11:c.2205+8868A>G	ENSP00000334021.7:n.2205+8868A>G
ENST00000375735.6:c.2594A>G	ENSP00000364887.2:p.Gln865Arg
ENST00000398093.7:c.2594A>G	ENSP00000381167.3:p.Gln865Arg
ENST00000648198.1:c.2612A>G	ENSP00000497329.1:p.Gln871Arg
ENST00000649323.1:c.*51A>G	ENSP00000497581.1:n.*51A>G
ENST00000650373.1:c.2594A>G	ENSP00000497174.1:p.Gln865Arg
XM_006718903.2:c.2594A>G	XP_006718966.1:p.Gln865Arg
XM_017018291.1:c.2594A>G	XP_016873780.1:p.Gln865Arg
XM_017018292.1:c.1976A>G	XP_016873781.1:p.Gln659Arg
XM_017018293.1:c.2594A>G	XP_016873782.1:p.Gln865Arg