Canonical Allele Identifier: CA411239143
Community Standard Title: NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30937967G>A , CM000684.2:g.30937967G>A GRCh38
NC_000022.10:g.31333954G>A , CM000684.1:g.31333954G>A GRCh37
NC_000022.9:g.29663954G>A NCBI36
NG_046752.1:g.35531C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1217C>T MANE Select NP_001290185.1:p.Ala406Val
ENST00000397641.8:c.1217C>T MANE Select ENSP00000380763.2:p.Ala406Val
NM_001303256.1:c.1217C>T NP_001290185.1:p.Ala406Val
NM_001303256.2:c.1217C>T NP_001290185.1:p.Ala406Val
NM_001303257.1:c.1217C>T NP_001290186.1:p.Ala406Val
NM_001303257.2:c.1217C>T NP_001290186.1:p.Ala406Val
NM_014941.2:c.1031C>T NP_055756.1:p.Ala344Val
NM_014941.3:c.1031C>T NP_055756.1:p.Ala344Val
ENST00000215862.8:c.1031C>T ENSP00000215862.4:p.Ala344Val
ENST00000397641.7:c.1217C>T ENSP00000380763.2:p.Ala406Val
ENST00000469915.1:n.459-965C>T
ENST00000674576.1:n.2663C>T
ENST00000675601.1:n.1059C>T
ENST00000676215.1:n.2060C>T
XM_011530003.1:c.1241C>T XP_011528305.1:p.Ala414Val
XM_011530004.1:c.1232C>T XP_011528306.1:p.Ala411Val
XM_011530004.2:c.1232C>T XP_011528306.1:p.Ala411Val
XM_011530005.1:c.1241C>T XP_011528307.1:p.Ala414Val
XM_011530006.1:c.1082C>T XP_011528308.1:p.Ala361Val
XM_017028667.2:c.1232C>T XP_016884156.1:p.Ala411Val