Canonical Allele Identifier: CA16621096

Gene: MORC2

Linked Data

• ClinVar Variation Id: 423564
• ClinVar RCV Id: RCV000479173 ; RCV001856876
• dbSNP Id: rs1064796495
• MyVariant Identifiers: chr22:g.31337446C>G (hg19) ; chr22:g.30941459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30941459C>G , CM000684.2:g.30941459C>G	GRCh38
NC_000022.10:g.31337446C>G , CM000684.1:g.31337446C>G	GRCh37
NC_000022.9:g.29667446C>G	NCBI36
NG_046752.1:g.32039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.798G>C MANE Select	ENSP00000380763.2:p.Arg266Ser
ENST00000675601.1:n.640G>C
ENST00000215862.8:c.612G>C	ENSP00000215862.4:p.Arg204Ser
ENST00000397641.7:c.798G>C	ENSP00000380763.2:p.Arg266Ser
ENST00000469915.1:n.352G>C
NM_001303256.1:c.798G>C	NP_001290185.1:p.Arg266Ser
NM_001303257.1:c.798G>C	NP_001290186.1:p.Arg266Ser
NM_014941.2:c.612G>C	NP_055756.1:p.Arg204Ser
XM_011530003.1:c.822G>C	XP_011528305.1:p.Arg274Ser
XM_011530004.1:c.813G>C	XP_011528306.1:p.Arg271Ser
XM_011530005.1:c.822G>C	XP_011528307.1:p.Arg274Ser
XM_011530006.1:c.663G>C	XP_011528308.1:p.Arg221Ser
NM_001303256.2:c.798G>C	NP_001290185.1:p.Arg266Ser
NM_001303257.2:c.798G>C	NP_001290186.1:p.Arg266Ser
NM_014941.3:c.612G>C	NP_055756.1:p.Arg204Ser
XM_011530004.2:c.813G>C	XP_011528306.1:p.Arg271Ser
XM_017028667.2:c.813G>C	XP_016884156.1:p.Arg271Ser
NM_001303256.3:c.798G>C MANE Select	NP_001290185.1:p.Arg266Ser