Canonical Allele Identifier: CA6253230

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103152181C>T , CM000673.2:g.103152181C>T	GRCh38
NC_000011.9:g.103022910C>T , CM000673.1:g.103022910C>T	GRCh37
NC_000011.8:g.102528120C>T	NCBI36
NG_016423.1:g.47751C>T
NG_016423.2:g.47751C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.2992C>T MANE Select	NP_001368.2:p.Arg998Ter
ENST00000375735.7:c.2992C>T MANE Select	ENSP00000364887.2:p.Arg998Ter
NM_001080463.2:c.2992C>T MANE Plus Clinical	NP_001073932.1:p.Arg998Ter
ENST00000650373.2:c.2992C>T MANE Plus Clinical	ENSP00000497174.1:p.Arg998Ter
NM_001080463.1:c.2992C>T	NP_001073932.1:p.Arg998Ter
NM_001377.2:c.2992C>T	NP_001368.2:p.Arg998Ter
ENST00000334267.11:c.2205+17762C>T	ENSP00000334021.7:n.2205+17762C>T
ENST00000375735.6:c.2992C>T	ENSP00000364887.2:p.Arg998Ter
ENST00000398093.7:c.2992C>T	ENSP00000381167.3:p.Arg998Ter
ENST00000648198.1:c.3010C>T	ENSP00000497329.1:p.Arg1004Ter
ENST00000649323.1:c.*449C>T	ENSP00000497581.1:n.*449C>T
ENST00000650373.1:c.2992C>T	ENSP00000497174.1:p.Arg998Ter
XM_006718903.2:c.2992C>T	XP_006718966.1:p.Arg998Ter
XM_017018291.1:c.2992C>T	XP_016873780.1:p.Arg998Ter
XM_017018292.1:c.2374C>T	XP_016873781.1:p.Arg792Ter
XM_017018293.1:c.2992C>T	XP_016873782.1:p.Arg998Ter