Canonical Allele Identifier: CA382239433

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 1481149
• ClinVar RCV Id: RCV002022228 ; RCV002579544
• dbSNP Id: rs2134944386
• gnomAD v4: 11-103165955-G-A
• MyVariant Identifiers: chr11:g.103036684G>A (hg19) ; chr11:g.103165955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103165955G>A , CM000673.2:g.103165955G>A	GRCh38
NC_000011.9:g.103036684G>A , CM000673.1:g.103036684G>A	GRCh37
NC_000011.8:g.102541894G>A	NCBI36
NG_016423.1:g.61525G>A
NG_016423.2:g.61525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4669G>A MANE Plus Clinical	ENSP00000497174.1:p.Asp1557Asn
ENST00000375735.7:c.4669G>A MANE Select	ENSP00000364887.2:p.Asp1557Asn
ENST00000649323.1:c.*2214G>A	ENSP00000497581.1:n.*2214G>A
ENST00000650373.1:c.4669G>A	ENSP00000497174.1:p.Asp1557Asn
ENST00000334267.11:c.2205+31536G>A	ENSP00000334021.7:n.2205+31536G>A
ENST00000375735.6:c.4669G>A	ENSP00000364887.2:p.Asp1557Asn
ENST00000398093.7:c.4669G>A	ENSP00000381167.3:p.Asp1557Asn
NM_001080463.1:c.4669G>A	NP_001073932.1:p.Asp1557Asn
NM_001377.2:c.4669G>A	NP_001368.2:p.Asp1557Asn
XM_006718903.2:c.4669G>A	XP_006718966.1:p.Asp1557Asn
XM_017018291.1:c.4669G>A	XP_016873780.1:p.Asp1557Asn
XM_017018292.1:c.4051G>A	XP_016873781.1:p.Asp1351Asn
XM_017018293.1:c.4669G>A	XP_016873782.1:p.Asp1557Asn
NM_001377.3:c.4669G>A MANE Select	NP_001368.2:p.Asp1557Asn
NM_001080463.2:c.4669G>A MANE Plus Clinical	NP_001073932.1:p.Asp1557Asn