Canonical Allele Identifier: CA382245572

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103245249A>C , CM000673.2:g.103245249A>C	GRCh38
NC_000011.9:g.103115978A>C , CM000673.1:g.103115978A>C	GRCh37
NC_000011.8:g.102621188A>C	NCBI36
NG_016423.1:g.140819A>C
NG_016423.2:g.140819A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.9919-2A>C MANE Select	NP_001368.2:n.9919-2A>C
ENST00000375735.7:c.9919-2A>C MANE Select	ENSP00000364887.2:n.9919-2A>C
NM_001080463.2:c.9940-2A>C MANE Plus Clinical	NP_001073932.1:n.9940-2A>C
ENST00000650373.2:c.9940-2A>C MANE Plus Clinical	ENSP00000497174.1:n.9940-2A>C
NM_001080463.1:c.9940-2A>C	NP_001073932.1:n.9940-2A>C
NM_001377.2:c.9919-2A>C	NP_001368.2:n.9919-2A>C
ENST00000334267.11:c.2205+110830A>C	ENSP00000334021.7:n.2205+110830A>C
ENST00000375735.6:c.9919-2A>C	ENSP00000364887.2:n.9919-2A>C
ENST00000398093.7:c.9940-2A>C	ENSP00000381167.3:n.9940-2A>C
ENST00000650373.1:c.9940-2A>C	ENSP00000497174.1:n.9940-2A>C
XM_006718903.2:c.9898-2A>C	XP_006718966.1:n.9898-2A>C
XM_017018291.1:c.9919-2A>C	XP_016873780.1:n.9919-2A>C
XM_017018292.1:c.9301-2A>C	XP_016873781.1:n.9301-2A>C