Canonical Allele Identifier: CA411239301

Gene: MORC2

Linked Data

• ClinVar Variation Id: 432089
• ClinVar RCV Id: RCV000498431 ; RCV000624267 ; RCV000689169 ; RCV003983095
• dbSNP Id: rs1555938796
• MyVariant Identifiers: chr22:g.31334085T>C (hg19) ; chr22:g.30938098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30938098T>C , CM000684.2:g.30938098T>C	GRCh38
NC_000022.10:g.31334085T>C , CM000684.1:g.31334085T>C	GRCh37
NC_000022.9:g.29664085T>C	NCBI36
NG_046752.1:g.35400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.1181A>G MANE Select	ENSP00000380763.2:p.Tyr394Cys
ENST00000674576.1:n.2627A>G
ENST00000675601.1:n.1023A>G
ENST00000676215.1:n.2024A>G
ENST00000215862.8:c.995A>G	ENSP00000215862.4:p.Tyr332Cys
ENST00000397641.7:c.1181A>G	ENSP00000380763.2:p.Tyr394Cys
ENST00000469915.1:n.459-1096A>G
NM_001303256.1:c.1181A>G	NP_001290185.1:p.Tyr394Cys
NM_001303257.1:c.1181A>G	NP_001290186.1:p.Tyr394Cys
NM_014941.2:c.995A>G	NP_055756.1:p.Tyr332Cys
XM_011530003.1:c.1205A>G	XP_011528305.1:p.Tyr402Cys
XM_011530004.1:c.1196A>G	XP_011528306.1:p.Tyr399Cys
XM_011530005.1:c.1205A>G	XP_011528307.1:p.Tyr402Cys
XM_011530006.1:c.1046A>G	XP_011528308.1:p.Tyr349Cys
NM_001303256.2:c.1181A>G	NP_001290185.1:p.Tyr394Cys
NM_001303257.2:c.1181A>G	NP_001290186.1:p.Tyr394Cys
NM_014941.3:c.995A>G	NP_055756.1:p.Tyr332Cys
XM_011530004.2:c.1196A>G	XP_011528306.1:p.Tyr399Cys
XM_017028667.2:c.1196A>G	XP_016884156.1:p.Tyr399Cys
NM_001303256.3:c.1181A>G MANE Select	NP_001290185.1:p.Tyr394Cys