Canonical Allele Identifier: CA10186778
Community Standard Title: NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30934908G>A , CM000684.2:g.30934908G>A GRCh38
NC_000022.10:g.31330895G>A , CM000684.1:g.31330895G>A GRCh37
NC_000022.9:g.29660895G>A NCBI36
NG_046752.1:g.38590C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.2066C>T MANE Select NP_001290185.1:p.Ala689Val
ENST00000397641.8:c.2066C>T MANE Select ENSP00000380763.2:p.Ala689Val
NM_001303256.1:c.2066C>T NP_001290185.1:p.Ala689Val
NM_001303256.2:c.2066C>T NP_001290185.1:p.Ala689Val
NM_001303257.1:c.2066C>T NP_001290186.1:p.Ala689Val
NM_001303257.2:c.2066C>T NP_001290186.1:p.Ala689Val
NM_014941.2:c.1880C>T NP_055756.1:p.Ala627Val
NM_014941.3:c.1880C>T NP_055756.1:p.Ala627Val
ENST00000215862.8:c.1880C>T ENSP00000215862.4:p.Ala627Val
ENST00000397641.7:c.2066C>T ENSP00000380763.2:p.Ala689Val
ENST00000674576.1:n.3512C>T
ENST00000675317.1:n.487C>T
ENST00000675601.1:n.1908C>T
ENST00000676215.1:n.2909C>T
ENST00000676263.1:n.311C>T
XM_011530003.1:c.2090C>T XP_011528305.1:p.Ala697Val
XM_011530004.1:c.2081C>T XP_011528306.1:p.Ala694Val
XM_011530004.2:c.2081C>T XP_011528306.1:p.Ala694Val
XM_011530005.1:c.2090C>T XP_011528307.1:p.Ala697Val
XM_011530006.1:c.1931C>T XP_011528308.1:p.Ala644Val
XM_017028667.2:c.2081C>T XP_016884156.1:p.Ala694Val