Canonical Allele Identifier: CA10586383

Gene: MORC2

Linked Data

• ClinVar Variation Id: 254251
• ClinVar RCV Id: RCV000240855 ; RCV000857125
• dbSNP Id: rs886037934
• MyVariant Identifiers: chr22:g.31337537T>C (hg19) ; chr22:g.30941550T>C (hg38)
• PubMed: PMID:26659848

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30941550T>C , CM000684.2:g.30941550T>C	GRCh38
NC_000022.10:g.31337537T>C , CM000684.1:g.31337537T>C	GRCh37
NC_000022.9:g.29667537T>C	NCBI36
NG_046752.1:g.31948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.707A>G MANE Select	ENSP00000380763.2:p.Glu236Gly
ENST00000675601.1:n.549A>G
ENST00000215862.8:c.521A>G	ENSP00000215862.4:p.Glu174Gly
ENST00000397641.7:c.707A>G	ENSP00000380763.2:p.Glu236Gly
ENST00000469915.1:n.261A>G
NM_001303256.1:c.707A>G	NP_001290185.1:p.Glu236Gly
NM_001303257.1:c.707A>G	NP_001290186.1:p.Glu236Gly
NM_014941.2:c.521A>G	NP_055756.1:p.Glu174Gly
XM_011530003.1:c.731A>G	XP_011528305.1:p.Glu244Gly
XM_011530004.1:c.722A>G	XP_011528306.1:p.Glu241Gly
XM_011530005.1:c.731A>G	XP_011528307.1:p.Glu244Gly
XM_011530006.1:c.572A>G	XP_011528308.1:p.Glu191Gly
NM_001303256.2:c.707A>G	NP_001290185.1:p.Glu236Gly
NM_001303257.2:c.707A>G	NP_001290186.1:p.Glu236Gly
NM_014941.3:c.521A>G	NP_055756.1:p.Glu174Gly
XM_011530004.2:c.722A>G	XP_011528306.1:p.Glu241Gly
XM_017028667.2:c.722A>G	XP_016884156.1:p.Glu241Gly
NM_001303256.3:c.707A>G MANE Select	NP_001290185.1:p.Glu236Gly