Canonical Allele Identifier: CA10186780
Community Standard Title: NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30934914C>T , CM000684.2:g.30934914C>T GRCh38
NC_000022.10:g.31330901C>T , CM000684.1:g.31330901C>T GRCh37
NC_000022.9:g.29660901C>T NCBI36
NG_046752.1:g.38584G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.2060G>A MANE Select NP_001290185.1:p.Arg687Gln
ENST00000397641.8:c.2060G>A MANE Select ENSP00000380763.2:p.Arg687Gln
NM_001303256.1:c.2060G>A NP_001290185.1:p.Arg687Gln
NM_001303256.2:c.2060G>A NP_001290185.1:p.Arg687Gln
NM_001303257.1:c.2060G>A NP_001290186.1:p.Arg687Gln
NM_001303257.2:c.2060G>A NP_001290186.1:p.Arg687Gln
NM_014941.2:c.1874G>A NP_055756.1:p.Arg625Gln
NM_014941.3:c.1874G>A NP_055756.1:p.Arg625Gln
ENST00000215862.8:c.1874G>A ENSP00000215862.4:p.Arg625Gln
ENST00000397641.7:c.2060G>A ENSP00000380763.2:p.Arg687Gln
ENST00000674576.1:n.3506G>A
ENST00000675317.1:n.481G>A
ENST00000675601.1:n.1902G>A
ENST00000676215.1:n.2903G>A
ENST00000676263.1:n.305G>A
XM_011530003.1:c.2084G>A XP_011528305.1:p.Arg695Gln
XM_011530004.1:c.2075G>A XP_011528306.1:p.Arg692Gln
XM_011530004.2:c.2075G>A XP_011528306.1:p.Arg692Gln
XM_011530005.1:c.2084G>A XP_011528307.1:p.Arg695Gln
XM_011530006.1:c.1925G>A XP_011528308.1:p.Arg642Gln
XM_017028667.2:c.2075G>A XP_016884156.1:p.Arg692Gln