Canonical Allele Identifier: CA6255705

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479194G>C , CM000673.2:g.103479194G>C	GRCh38
NC_000011.9:g.103349922G>C , CM000673.1:g.103349922G>C	GRCh37
NC_000011.8:g.102855132G>C	NCBI36
NG_016423.1:g.374763G>C
NG_016423.2:g.374764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12886G>C MANE Plus Clinical	ENSP00000497174.1:p.Gly4296Arg
ENST00000375735.7:c.12865G>C MANE Select	ENSP00000364887.2:p.Gly4289Arg
ENST00000650373.1:c.12886G>C	ENSP00000497174.1:p.Gly4296Arg
ENST00000334267.11:c.2704G>C	ENSP00000334021.7:p.Gly902Arg
ENST00000375735.6:c.12865G>C	ENSP00000364887.2:p.Gly4289Arg
ENST00000398093.7:c.12886G>C	ENSP00000381167.3:p.Gly4296Arg
ENST00000527252.1:n.417G>C
ENST00000528670.5:c.2048G>C	ENSP00000433451.1:n.2048G>C
ENST00000530547.1:n.596G>C
ENST00000533197.1:c.616G>C	ENSP00000436736.1:p.Gly206Arg
NM_001080463.1:c.12886G>C	NP_001073932.1:p.Gly4296Arg
NM_001377.2:c.12865G>C	NP_001368.2:p.Gly4289Arg
XM_006718903.2:c.12844G>C	XP_006718966.1:p.Gly4282Arg
XM_017018291.1:c.12655G>C	XP_016873780.1:p.Gly4219Arg
XM_017018292.1:c.12247G>C	XP_016873781.1:p.Gly4083Arg
NM_001377.3:c.12865G>C MANE Select	NP_001368.2:p.Gly4289Arg
NM_001080463.2:c.12886G>C MANE Plus Clinical	NP_001073932.1:p.Gly4296Arg