Canonical Allele Identifier: CA251315
Gene: MORC2 HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'