Canonical Allele Identifier: CA601235017

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1189274332
• gnomAD v2: 11-102995931-GCT-G
• gnomAD v4: 11-103125202-GCT-G
• MyVariant Identifiers: chr11:g.102995932_102995933del (hg19) ; chr11:g.103125203_103125204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125207_103125208del , CM000673.2:g.103125207_103125208del	GRCh38
NC_000011.9:g.102995936_102995937del , CM000673.1:g.102995936_102995937del	GRCh37
NC_000011.8:g.102501146_102501147del	NCBI36
NG_016423.1:g.20777_20778del
NG_016423.2:g.20777_20778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.1769_1770del MANE Plus Clinical	ENSP00000497174.1:p.Ser590CysfsTer28
ENST00000375735.7:c.1769_1770del MANE Select	ENSP00000364887.2:p.Ser590CysfsTer28
ENST00000648198.1:c.1769_1770del	ENSP00000497329.1:p.Ser590CysfsTer28
ENST00000649323.1:c.1769_1770del	ENSP00000497581.1:p.Ser590CysfsTer28
ENST00000650373.1:c.1769_1770del	ENSP00000497174.1:p.Ser590CysfsTer28
ENST00000334267.11:c.1769_1770del	ENSP00000334021.7:p.Ser590CysfsTer28
ENST00000375735.6:c.1769_1770del	ENSP00000364887.2:p.Ser590CysfsTer28
ENST00000398093.7:c.1769_1770del	ENSP00000381167.3:p.Ser590CysfsTer28
NM_001080463.1:c.1769_1770del	NP_001073932.1:p.Ser590CysfsTer28
NM_001377.2:c.1769_1770del	NP_001368.2:p.Ser590CysfsTer28
XM_006718903.2:c.1769_1770del	XP_006718966.1:p.Ser590CysfsTer28
XM_017018291.1:c.1769_1770del	XP_016873780.1:p.Ser590CysfsTer28
XM_017018292.1:c.1151_1152del	XP_016873781.1:p.Ser384CysfsTer28
XM_017018293.1:c.1769_1770del	XP_016873782.1:p.Ser590CysfsTer28
NM_001377.3:c.1769_1770del MANE Select	NP_001368.2:p.Ser590CysfsTer28
NM_001080463.2:c.1769_1770del MANE Plus Clinical	NP_001073932.1:p.Ser590CysfsTer28