Canonical Allele Identifier: CA382259884

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103303227G>T , CM000673.2:g.103303227G>T	GRCh38
NC_000011.9:g.103173956G>T , CM000673.1:g.103173956G>T	GRCh37
NC_000011.8:g.102679166G>T	NCBI36
NG_016423.1:g.198797G>T
NG_016423.2:g.198797G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.11230G>T MANE Select	NP_001368.2:p.Glu3744Ter
ENST00000375735.7:c.11230G>T MANE Select	ENSP00000364887.2:p.Glu3744Ter
NM_001080463.2:c.11251G>T MANE Plus Clinical	NP_001073932.1:p.Glu3751Ter
ENST00000650373.2:c.11251G>T MANE Plus Clinical	ENSP00000497174.1:p.Glu3751Ter
NM_001080463.1:c.11251G>T	NP_001073932.1:p.Glu3751Ter
NM_001377.2:c.11230G>T	NP_001368.2:p.Glu3744Ter
ENST00000334267.11:c.2206-132716G>T	ENSP00000334021.7:n.2206-132716G>T
ENST00000375735.6:c.11230G>T	ENSP00000364887.2:p.Glu3744Ter
ENST00000398093.7:c.11251G>T	ENSP00000381167.3:p.Glu3751Ter
ENST00000528670.5:c.409G>T	ENSP00000433451.1:p.Glu137Ter
ENST00000650373.1:c.11251G>T	ENSP00000497174.1:p.Glu3751Ter
XM_006718903.2:c.11209G>T	XP_006718966.1:p.Glu3737Ter
XM_017018291.1:c.11230G>T	XP_016873780.1:p.Glu3744Ter
XM_017018292.1:c.10612G>T	XP_016873781.1:p.Glu3538Ter