Canonical Allele Identifier: CA249695

Gene: MORC2

Linked Data

• ClinVar Variation Id: 218307
• ClinVar RCV Id: RCV000202547 ; RCV000624201 ; RCV000857122 ; RCV000857123 ; RCV001091566 ; RCV003387804
• dbSNP Id: rs864309503
• COSMIC: COSM5511209 ; COSM5511210
• MyVariant Identifiers: chr22:g.31337490G>A (hg19) ; chr22:g.30941503G>A (hg38)
• PubMed: PMID:7964809 ; PMID:12601114 ; PMID:26497905 ; PMID:26659848 ; PMID:26912637 ; PMID:27105897 ; PMID:27329773 ; PMID:27794525 ; PMID:28334961 ; PMID:28402445 ; PMID:28581500 ; PMID:28771897

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30941503G>A , CM000684.2:g.30941503G>A	GRCh38
NC_000022.10:g.31337490G>A , CM000684.1:g.31337490G>A	GRCh37
NC_000022.9:g.29667490G>A	NCBI36
NG_046752.1:g.31995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.754C>T MANE Select	ENSP00000380763.2:p.Arg252Trp
ENST00000675601.1:n.596C>T
ENST00000215862.8:c.568C>T	ENSP00000215862.4:p.Arg190Trp
ENST00000397641.7:c.754C>T	ENSP00000380763.2:p.Arg252Trp
ENST00000469915.1:n.308C>T
NM_001303256.1:c.754C>T	NP_001290185.1:p.Arg252Trp
NM_001303257.1:c.754C>T	NP_001290186.1:p.Arg252Trp
NM_014941.2:c.568C>T	NP_055756.1:p.Arg190Trp
XM_011530003.1:c.778C>T	XP_011528305.1:p.Arg260Trp
XM_011530004.1:c.769C>T	XP_011528306.1:p.Arg257Trp
XM_011530005.1:c.778C>T	XP_011528307.1:p.Arg260Trp
XM_011530006.1:c.619C>T	XP_011528308.1:p.Arg207Trp
NM_001303256.2:c.754C>T	NP_001290185.1:p.Arg252Trp
NM_001303257.2:c.754C>T	NP_001290186.1:p.Arg252Trp
NM_014941.3:c.568C>T	NP_055756.1:p.Arg190Trp
XM_011530004.2:c.769C>T	XP_011528306.1:p.Arg257Trp
XM_017028667.2:c.769C>T	XP_016884156.1:p.Arg257Trp
NM_001303256.3:c.754C>T MANE Select	NP_001290185.1:p.Arg252Trp