Canonical Allele Identifier: CA411238961
Community Standard Title: NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30937919T>C , CM000684.2:g.30937919T>C GRCh38
NC_000022.10:g.31333906T>C , CM000684.1:g.31333906T>C GRCh37
NC_000022.9:g.29663906T>C NCBI36
NG_046752.1:g.35579A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1265A>G MANE Select NP_001290185.1:p.Glu422Gly
ENST00000397641.8:c.1265A>G MANE Select ENSP00000380763.2:p.Glu422Gly
NM_001303256.1:c.1265A>G NP_001290185.1:p.Glu422Gly
NM_001303256.2:c.1265A>G NP_001290185.1:p.Glu422Gly
NM_001303257.1:c.1265A>G NP_001290186.1:p.Glu422Gly
NM_001303257.2:c.1265A>G NP_001290186.1:p.Glu422Gly
NM_014941.2:c.1079A>G NP_055756.1:p.Glu360Gly
NM_014941.3:c.1079A>G NP_055756.1:p.Glu360Gly
ENST00000215862.8:c.1079A>G ENSP00000215862.4:p.Glu360Gly
ENST00000397641.7:c.1265A>G ENSP00000380763.2:p.Glu422Gly
ENST00000469915.1:n.459-917A>G
ENST00000674576.1:n.2711A>G
ENST00000675601.1:n.1107A>G
ENST00000676215.1:n.2108A>G
XM_011530003.1:c.1289A>G XP_011528305.1:p.Glu430Gly
XM_011530004.1:c.1280A>G XP_011528306.1:p.Glu427Gly
XM_011530004.2:c.1280A>G XP_011528306.1:p.Glu427Gly
XM_011530005.1:c.1289A>G XP_011528307.1:p.Glu430Gly
XM_011530006.1:c.1130A>G XP_011528308.1:p.Glu377Gly
XM_017028667.2:c.1280A>G XP_016884156.1:p.Glu427Gly