Canonical Allele Identifier: CA251315

Gene: MORC2

Linked Data

• ClinVar Variation Id: 218308
• ClinVar RCV Id: RCV000202460 ; RCV000522454 ; RCV000857126 ; RCV001255406 ; RCV002433895
• dbSNP Id: rs864309504
• COSMIC: COSM6033369 ; COSM6033370
• MyVariant Identifiers: chr22:g.31345795G>A (hg19) ; chr22:g.30949809G>A (hg38)
• PubMed: PMID:26497905

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30949809G>A , CM000684.2:g.30949809G>A	GRCh38
NC_000022.10:g.31345795G>A , CM000684.1:g.31345795G>A	GRCh37
NC_000022.9:g.29675795G>A	NCBI36
NG_046752.1:g.23689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.260C>T MANE Select	ENSP00000380763.2:p.Ser87Leu
ENST00000215862.8:c.74C>T	ENSP00000215862.4:p.Ser25Leu
ENST00000397641.7:c.260C>T	ENSP00000380763.2:p.Ser87Leu
ENST00000476152.2:n.382C>T
NM_001303256.1:c.260C>T	NP_001290185.1:p.Ser87Leu
NM_001303257.1:c.260C>T	NP_001290186.1:p.Ser87Leu
NM_014941.2:c.74C>T	NP_055756.1:p.Ser25Leu
XM_011530003.1:c.284C>T	XP_011528305.1:p.Ser95Leu
XM_011530004.1:c.275C>T	XP_011528306.1:p.Ser92Leu
XM_011530005.1:c.284C>T	XP_011528307.1:p.Ser95Leu
XM_011530006.1:c.125C>T	XP_011528308.1:p.Ser42Leu
NM_001303256.2:c.260C>T	NP_001290185.1:p.Ser87Leu
NM_001303257.2:c.260C>T	NP_001290186.1:p.Ser87Leu
NM_014941.3:c.74C>T	NP_055756.1:p.Ser25Leu
XM_011530004.2:c.275C>T	XP_011528306.1:p.Ser92Leu
XM_017028667.2:c.275C>T	XP_016884156.1:p.Ser92Leu
NM_001303256.3:c.260C>T MANE Select	NP_001290185.1:p.Ser87Leu