Canonical Allele Identifier: CA411239136
Community Standard Title: NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30937964C>T , CM000684.2:g.30937964C>T GRCh38
NC_000022.10:g.31333951C>T , CM000684.1:g.31333951C>T GRCh37
NC_000022.9:g.29663951C>T NCBI36
NG_046752.1:g.35534G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1220G>A MANE Select NP_001290185.1:p.Cys407Tyr
ENST00000397641.8:c.1220G>A MANE Select ENSP00000380763.2:p.Cys407Tyr
NM_001303256.1:c.1220G>A NP_001290185.1:p.Cys407Tyr
NM_001303256.2:c.1220G>A NP_001290185.1:p.Cys407Tyr
NM_001303257.1:c.1220G>A NP_001290186.1:p.Cys407Tyr
NM_001303257.2:c.1220G>A NP_001290186.1:p.Cys407Tyr
NM_014941.2:c.1034G>A NP_055756.1:p.Cys345Tyr
NM_014941.3:c.1034G>A NP_055756.1:p.Cys345Tyr
ENST00000215862.8:c.1034G>A ENSP00000215862.4:p.Cys345Tyr
ENST00000397641.7:c.1220G>A ENSP00000380763.2:p.Cys407Tyr
ENST00000469915.1:n.459-962G>A
ENST00000674576.1:n.2666G>A
ENST00000675601.1:n.1062G>A
ENST00000676215.1:n.2063G>A
XM_011530003.1:c.1244G>A XP_011528305.1:p.Cys415Tyr
XM_011530004.1:c.1235G>A XP_011528306.1:p.Cys412Tyr
XM_011530004.2:c.1235G>A XP_011528306.1:p.Cys412Tyr
XM_011530005.1:c.1244G>A XP_011528307.1:p.Cys415Tyr
XM_011530006.1:c.1085G>A XP_011528308.1:p.Cys362Tyr
XM_017028667.2:c.1235G>A XP_016884156.1:p.Cys412Tyr