Canonical Allele Identifier: CA658832942

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[103177652A>T;103304601A>G] , CM000673.2:g.[103177652A>T;103304601A>G]	GRCh38
NC_000011.9:g.[103048381A>T;103175330A>G] , CM000673.1:g.[103048381A>T;103175330A>G]	GRCh37
NC_000011.8:g.[102553591A>T;102680540A>G]	NCBI36
NG_016423.1:g.[73222A>T;200171A>G]
NG_016423.2:g.[73222A>T;200171A>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.[5971A>T;11284A>G] MANE Plus Clinical	ENSP00000497174.1:p.[Met1991Leu;Met3762Val]
ENST00000375735.7:c.[5971A>T;11263A>G] MANE Select	ENSP00000364887.2:p.[Met1991Leu;Met3755Val]
ENST00000650373.1:c.[5971A>T;11284A>G]	ENSP00000497174.1:p.[Met1991Leu;Met3762Val]
ENST00000334267.11:c.[2205+43233A>T;2206-131342A>G]	ENSP00000334021.7:n.[2205+43233A>T;2206-131342A>G]
ENST00000375735.6:c.[5971A>T;11263A>G]	ENSP00000364887.2:p.[Met1991Leu;Met3755Val]
ENST00000398093.7:c.[5971A>T;11284A>G]	ENSP00000381167.3:p.[Met1991Leu;Met3762Val]
NM_001080463.1:c.[5971A>T;11284A>G]	NP_001073932.1:p.[Met1991Leu;Met3762Val]
NM_001377.2:c.[5971A>T;11263A>G]	NP_001368.2:p.[Met1991Leu;Met3755Val]
XM_006718903.2:c.[5971A>T;11242A>G]	XP_006718966.1:p.[Met1991Leu;Met3748Val]
XM_017018291.1:c.[5971A>T;11263A>G]	XP_016873780.1:p.[Met1991Leu;Met3755Val]
XM_017018292.1:c.[5353A>T;10645A>G]	XP_016873781.1:p.[Met1785Leu;Met3549Val]
NM_001377.3:c.[5971A>T;11263A>G] MANE Select	NP_001368.2:p.[Met1991Leu;Met3755Val]
NM_001080463.2:c.[5971A>T;11284A>G] MANE Plus Clinical	NP_001073932.1:p.[Met1991Leu;Met3762Val]