Canonical Allele Identifier: CA411239428
Community Standard Title: NM_001303256.3(MORC2):c.1128C>G (p.His376Gln)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30938151G>C , CM000684.2:g.30938151G>C GRCh38
NC_000022.10:g.31334138G>C , CM000684.1:g.31334138G>C GRCh37
NC_000022.9:g.29664138G>C NCBI36
NG_046752.1:g.35347C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1128C>G MANE Select NP_001290185.1:p.His376Gln
ENST00000397641.8:c.1128C>G MANE Select ENSP00000380763.2:p.His376Gln
NM_001303256.1:c.1128C>G NP_001290185.1:p.His376Gln
NM_001303256.2:c.1128C>G NP_001290185.1:p.His376Gln
NM_001303257.1:c.1128C>G NP_001290186.1:p.His376Gln
NM_001303257.2:c.1128C>G NP_001290186.1:p.His376Gln
NM_014941.2:c.942C>G NP_055756.1:p.His314Gln
NM_014941.3:c.942C>G NP_055756.1:p.His314Gln
ENST00000215862.8:c.942C>G ENSP00000215862.4:p.His314Gln
ENST00000397641.7:c.1128C>G ENSP00000380763.2:p.His376Gln
ENST00000469915.1:n.459-1149C>G
ENST00000674576.1:n.2574C>G
ENST00000675601.1:n.970C>G
ENST00000676215.1:n.1971C>G
XM_011530003.1:c.1152C>G XP_011528305.1:p.His384Gln
XM_011530004.1:c.1143C>G XP_011528306.1:p.His381Gln
XM_011530004.2:c.1143C>G XP_011528306.1:p.His381Gln
XM_011530005.1:c.1152C>G XP_011528307.1:p.His384Gln
XM_011530006.1:c.993C>G XP_011528308.1:p.His331Gln
XM_017028667.2:c.1143C>G XP_016884156.1:p.His381Gln