Canonical Allele Identifier: CA10187090

Gene: MORC2

Linked Data

• ClinVar Variation Id: 475602
• ClinVar RCV Id: RCV000536375 ; RCV002377166
• dbSNP Id: rs199973357
• ExAC: 22:31335964 G / T
• gnomAD v2: 22-31335964-G-T
• gnomAD v3: 22-30939977-G-T
• gnomAD v4: 22-30939977-G-T
• MyVariant Identifiers: chr22:g.31335964G>T (hg19) ; chr22:g.30939977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30939977G>T , CM000684.2:g.30939977G>T	GRCh38
NC_000022.10:g.31335964G>T , CM000684.1:g.31335964G>T	GRCh37
NC_000022.9:g.29665964G>T	NCBI36
NG_046752.1:g.33521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.969C>A MANE Select	ENSP00000380763.2:p.Asp323Glu
ENST00000674576.1:n.748C>A
ENST00000675601.1:n.811C>A
ENST00000676215.1:n.145C>A
ENST00000215862.8:c.783C>A	ENSP00000215862.4:p.Asp261Glu
ENST00000397641.7:c.969C>A	ENSP00000380763.2:p.Asp323Glu
ENST00000469915.1:n.458+781C>A
NM_001303256.1:c.969C>A	NP_001290185.1:p.Asp323Glu
NM_001303257.1:c.969C>A	NP_001290186.1:p.Asp323Glu
NM_014941.2:c.783C>A	NP_055756.1:p.Asp261Glu
XM_011530003.1:c.993C>A	XP_011528305.1:p.Asp331Glu
XM_011530004.1:c.984C>A	XP_011528306.1:p.Asp328Glu
XM_011530005.1:c.993C>A	XP_011528307.1:p.Asp331Glu
XM_011530006.1:c.834C>A	XP_011528308.1:p.Asp278Glu
NM_001303256.2:c.969C>A	NP_001290185.1:p.Asp323Glu
NM_001303257.2:c.969C>A	NP_001290186.1:p.Asp323Glu
NM_014941.3:c.783C>A	NP_055756.1:p.Asp261Glu
XM_011530004.2:c.984C>A	XP_011528306.1:p.Asp328Glu
XM_017028667.2:c.984C>A	XP_016884156.1:p.Asp328Glu
NM_001303256.3:c.969C>A MANE Select	NP_001290185.1:p.Asp323Glu