Canonical Allele Identifier: CA382243562

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103241546G>A , CM000673.2:g.103241546G>A	GRCh38
NC_000011.9:g.103112275G>A , CM000673.1:g.103112275G>A	GRCh37
NC_000011.8:g.102617485G>A	NCBI36
NG_016423.1:g.137116G>A
NG_016423.2:g.137116G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.9820-2147G>A MANE Select	NP_001368.2:n.9820-2147G>A
ENST00000375735.7:c.9820-2147G>A MANE Select	ENSP00000364887.2:n.9820-2147G>A
NM_001080463.2:c.9839G>A MANE Plus Clinical	NP_001073932.1:p.Trp3280Ter
ENST00000650373.2:c.9839G>A MANE Plus Clinical	ENSP00000497174.1:p.Trp3280Ter
NM_001080463.1:c.9839G>A	NP_001073932.1:p.Trp3280Ter
NM_001377.2:c.9820-2147G>A	NP_001368.2:n.9820-2147G>A
ENST00000334267.11:c.2205+107127G>A	ENSP00000334021.7:n.2205+107127G>A
ENST00000375735.6:c.9820-2147G>A	ENSP00000364887.2:n.9820-2147G>A
ENST00000398093.7:c.9839G>A	ENSP00000381167.3:p.Trp3280Ter
ENST00000650373.1:c.9839G>A	ENSP00000497174.1:p.Trp3280Ter
XM_006718903.2:c.9799-2147G>A	XP_006718966.1:n.9799-2147G>A
XM_017018291.1:c.9820-2147G>A	XP_016873780.1:n.9820-2147G>A
XM_017018292.1:c.9202-2147G>A	XP_016873781.1:n.9202-2147G>A