Canonical Allele Identifier: CA411241091

Gene: MORC2

Linked Data

• ClinVar Variation Id: 3235749
• ClinVar RCV Id: RCV004555010
• MyVariant Identifiers: chr22:g.31337434G>C (hg19) ; chr22:g.30941447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30941447G>C , CM000684.2:g.30941447G>C	GRCh38
NC_000022.10:g.31337434G>C , CM000684.1:g.31337434G>C	GRCh37
NC_000022.9:g.29667434G>C	NCBI36
NG_046752.1:g.32051C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397641.8:c.810C>G MANE Select	ENSP00000380763.2:p.Cys270Trp
ENST00000675601.1:n.652C>G
ENST00000215862.8:c.624C>G	ENSP00000215862.4:p.Cys208Trp
ENST00000397641.7:c.810C>G	ENSP00000380763.2:p.Cys270Trp
ENST00000469915.1:n.364C>G
NM_001303256.1:c.810C>G	NP_001290185.1:p.Cys270Trp
NM_001303257.1:c.810C>G	NP_001290186.1:p.Cys270Trp
NM_014941.2:c.624C>G	NP_055756.1:p.Cys208Trp
XM_011530003.1:c.834C>G	XP_011528305.1:p.Cys278Trp
XM_011530004.1:c.825C>G	XP_011528306.1:p.Cys275Trp
XM_011530005.1:c.834C>G	XP_011528307.1:p.Cys278Trp
XM_011530006.1:c.675C>G	XP_011528308.1:p.Cys225Trp
NM_001303256.2:c.810C>G	NP_001290185.1:p.Cys270Trp
NM_001303257.2:c.810C>G	NP_001290186.1:p.Cys270Trp
NM_014941.3:c.624C>G	NP_055756.1:p.Cys208Trp
XM_011530004.2:c.825C>G	XP_011528306.1:p.Cys275Trp
XM_017028667.2:c.825C>G	XP_016884156.1:p.Cys275Trp
NM_001303256.3:c.810C>G MANE Select	NP_001290185.1:p.Cys270Trp