Canonical Allele Identifier: CA10186827
Community Standard Title: NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30935152G>A , CM000684.2:g.30935152G>A GRCh38
NC_000022.10:g.31331139G>A , CM000684.1:g.31331139G>A GRCh37
NC_000022.9:g.29661139G>A NCBI36
NG_046752.1:g.38346C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1822C>T MANE Select NP_001290185.1:p.Arg608Cys
ENST00000397641.8:c.1822C>T MANE Select ENSP00000380763.2:p.Arg608Cys
NM_001303256.1:c.1822C>T NP_001290185.1:p.Arg608Cys
NM_001303256.2:c.1822C>T NP_001290185.1:p.Arg608Cys
NM_001303257.1:c.1822C>T NP_001290186.1:p.Arg608Cys
NM_001303257.2:c.1822C>T NP_001290186.1:p.Arg608Cys
NM_014941.2:c.1636C>T NP_055756.1:p.Arg546Cys
NM_014941.3:c.1636C>T NP_055756.1:p.Arg546Cys
ENST00000215862.8:c.1636C>T ENSP00000215862.4:p.Arg546Cys
ENST00000397641.7:c.1822C>T ENSP00000380763.2:p.Arg608Cys
ENST00000674576.1:n.3268C>T
ENST00000675317.1:n.243C>T
ENST00000675601.1:n.1664C>T
ENST00000676215.1:n.2665C>T
ENST00000676263.1:n.67C>T
XM_011530003.1:c.1846C>T XP_011528305.1:p.Arg616Cys
XM_011530004.1:c.1837C>T XP_011528306.1:p.Arg613Cys
XM_011530004.2:c.1837C>T XP_011528306.1:p.Arg613Cys
XM_011530005.1:c.1846C>T XP_011528307.1:p.Arg616Cys
XM_011530006.1:c.1687C>T XP_011528308.1:p.Arg563Cys
XM_017028667.2:c.1837C>T XP_016884156.1:p.Arg613Cys