Canonical Allele Identifier: CA10186758
Community Standard Title: NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30934786A>T , CM000684.2:g.30934786A>T GRCh38
NC_000022.10:g.31330773A>T , CM000684.1:g.31330773A>T GRCh37
NC_000022.9:g.29660773A>T NCBI36
NG_046752.1:g.38712T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.2188T>A MANE Select NP_001290185.1:p.Ser730Thr
ENST00000397641.8:c.2188T>A MANE Select ENSP00000380763.2:p.Ser730Thr
NM_001303256.1:c.2188T>A NP_001290185.1:p.Ser730Thr
NM_001303256.2:c.2188T>A NP_001290185.1:p.Ser730Thr
NM_001303257.1:c.2188T>A NP_001290186.1:p.Ser730Thr
NM_001303257.2:c.2188T>A NP_001290186.1:p.Ser730Thr
NM_014941.2:c.2002T>A NP_055756.1:p.Ser668Thr
NM_014941.3:c.2002T>A NP_055756.1:p.Ser668Thr
ENST00000215862.8:c.2002T>A ENSP00000215862.4:p.Ser668Thr
ENST00000397641.7:c.2188T>A ENSP00000380763.2:p.Ser730Thr
ENST00000674576.1:n.3634T>A
ENST00000675317.1:n.609T>A
ENST00000675601.1:n.2030T>A
ENST00000676215.1:n.3031T>A
ENST00000676263.1:n.433T>A
XM_011530003.1:c.2212T>A XP_011528305.1:p.Ser738Thr
XM_011530004.1:c.2203T>A XP_011528306.1:p.Ser735Thr
XM_011530004.2:c.2203T>A XP_011528306.1:p.Ser735Thr
XM_011530005.1:c.2212T>A XP_011528307.1:p.Ser738Thr
XM_011530006.1:c.2053T>A XP_011528308.1:p.Ser685Thr
XM_017028667.2:c.2203T>A XP_016884156.1:p.Ser735Thr