Canonical Allele Identifier: CA382250363

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103186398C>T , CM000673.2:g.103186398C>T	GRCh38
NC_000011.9:g.103057127C>T , CM000673.1:g.103057127C>T	GRCh37
NC_000011.8:g.102562337C>T	NCBI36
NG_016423.1:g.81968C>T
NG_016423.2:g.81968C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.6790C>T MANE Select	NP_001368.2:p.Gln2264Ter
ENST00000375735.7:c.6790C>T MANE Select	ENSP00000364887.2:p.Gln2264Ter
NM_001080463.2:c.6790C>T MANE Plus Clinical	NP_001073932.1:p.Gln2264Ter
ENST00000650373.2:c.6790C>T MANE Plus Clinical	ENSP00000497174.1:p.Gln2264Ter
NM_001080463.1:c.6790C>T	NP_001073932.1:p.Gln2264Ter
NM_001377.2:c.6790C>T	NP_001368.2:p.Gln2264Ter
ENST00000334267.11:c.2205+51979C>T	ENSP00000334021.7:n.2205+51979C>T
ENST00000375735.6:c.6790C>T	ENSP00000364887.2:p.Gln2264Ter
ENST00000398093.7:c.6790C>T	ENSP00000381167.3:p.Gln2264Ter
ENST00000649323.1:c.*4335C>T	ENSP00000497581.1:n.*4335C>T
ENST00000650373.1:c.6790C>T	ENSP00000497174.1:p.Gln2264Ter
XM_006718903.2:c.6790C>T	XP_006718966.1:p.Gln2264Ter
XM_017018291.1:c.6790C>T	XP_016873780.1:p.Gln2264Ter
XM_017018292.1:c.6172C>T	XP_016873781.1:p.Gln2058Ter
XM_017018293.1:c.6790C>T	XP_016873782.1:p.Gln2264Ter