Canonical Allele Identifier: CA411244765
Community Standard Title: NM_001303256.3(MORC2):c.395G>A (p.Arg132His)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30946372C>T , CM000684.2:g.30946372C>T GRCh38
NC_000022.10:g.31342359C>T , CM000684.1:g.31342359C>T GRCh37
NC_000022.9:g.29672359C>T NCBI36
NG_046752.1:g.27126G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.395G>A MANE Select NP_001290185.1:p.Arg132His
ENST00000397641.8:c.395G>A MANE Select ENSP00000380763.2:p.Arg132His
NM_001303256.1:c.395G>A NP_001290185.1:p.Arg132His
NM_001303256.2:c.395G>A NP_001290185.1:p.Arg132His
NM_001303257.1:c.395G>A NP_001290186.1:p.Arg132His
NM_001303257.2:c.395G>A NP_001290186.1:p.Arg132His
NM_014941.2:c.209G>A NP_055756.1:p.Arg70His
NM_014941.3:c.209G>A NP_055756.1:p.Arg70His
ENST00000215862.8:c.209G>A ENSP00000215862.4:p.Arg70His
ENST00000397641.7:c.395G>A ENSP00000380763.2:p.Arg132His
ENST00000476152.2:n.517G>A
ENST00000675601.1:n.237G>A
XM_011530003.1:c.419G>A XP_011528305.1:p.Arg140His
XM_011530004.1:c.410G>A XP_011528306.1:p.Arg137His
XM_011530004.2:c.410G>A XP_011528306.1:p.Arg137His
XM_011530005.1:c.419G>A XP_011528307.1:p.Arg140His
XM_011530006.1:c.260G>A XP_011528308.1:p.Arg87His
XM_017028667.2:c.410G>A XP_016884156.1:p.Arg137His