Canonical Allele Identifier: CA1996413802

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1861648077

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173267_103173268dup , CM000673.2:g.103173267_103173268dup	GRCh38
NC_000011.9:g.103043996_103043997dup , CM000673.1:g.103043996_103043997dup	GRCh37
NC_000011.8:g.102549206_102549207dup	NCBI36
NG_016423.1:g.68837_68838dup
NG_016423.2:g.68837_68838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5520_5521dup MANE Plus Clinical	ENSP00000497174.1:p.Leu1841TyrfsTer2
ENST00000375735.7:c.5520_5521dup MANE Select	ENSP00000364887.2:p.Leu1841TyrfsTer2
ENST00000649323.1:c.*3065_*3066dup	ENSP00000497581.1:n.*3065_*3066dup
ENST00000650373.1:c.5520_5521dup	ENSP00000497174.1:p.Leu1841TyrfsTer2
ENST00000334267.11:c.2205+38848_2205+38849dup	ENSP00000334021.7:n.2205+38848_2205+38849dup
ENST00000375735.6:c.5520_5521dup	ENSP00000364887.2:p.Leu1841TyrfsTer2
ENST00000398093.7:c.5520_5521dup	ENSP00000381167.3:p.Leu1841TyrfsTer2
NM_001080463.1:c.5520_5521dup	NP_001073932.1:p.Leu1841TyrfsTer2
NM_001377.2:c.5520_5521dup	NP_001368.2:p.Leu1841TyrfsTer2
XM_006718903.2:c.5520_5521dup	XP_006718966.1:p.Leu1841TyrfsTer2
XM_017018291.1:c.5520_5521dup	XP_016873780.1:p.Leu1841TyrfsTer2
XM_017018292.1:c.4902_4903dup	XP_016873781.1:p.Leu1635TyrfsTer2
XM_017018293.1:c.5520_5521dup	XP_016873782.1:p.Leu1841TyrfsTer2
NM_001377.3:c.5520_5521dup MANE Select	NP_001368.2:p.Leu1841TyrfsTer2
NM_001080463.2:c.5520_5521dup MANE Plus Clinical	NP_001073932.1:p.Leu1841TyrfsTer2