Canonical Allele Identifier: CA411244914
Community Standard Title: NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30946439G>A , CM000684.2:g.30946439G>A GRCh38
NC_000022.10:g.31342426G>A , CM000684.1:g.31342426G>A GRCh37
NC_000022.9:g.29672426G>A NCBI36
NG_046752.1:g.27059C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.328C>T MANE Select NP_001290185.1:p.Arg110Cys
ENST00000397641.8:c.328C>T MANE Select ENSP00000380763.2:p.Arg110Cys
NM_001303256.1:c.328C>T NP_001290185.1:p.Arg110Cys
NM_001303256.2:c.328C>T NP_001290185.1:p.Arg110Cys
NM_001303257.1:c.328C>T NP_001290186.1:p.Arg110Cys
NM_001303257.2:c.328C>T NP_001290186.1:p.Arg110Cys
NM_014941.2:c.142C>T NP_055756.1:p.Arg48Cys
NM_014941.3:c.142C>T NP_055756.1:p.Arg48Cys
ENST00000215862.8:c.142C>T ENSP00000215862.4:p.Arg48Cys
ENST00000397641.7:c.328C>T ENSP00000380763.2:p.Arg110Cys
ENST00000476152.2:n.450C>T
ENST00000675601.1:n.170C>T
XM_011530003.1:c.352C>T XP_011528305.1:p.Arg118Cys
XM_011530004.1:c.343C>T XP_011528306.1:p.Arg115Cys
XM_011530004.2:c.343C>T XP_011528306.1:p.Arg115Cys
XM_011530005.1:c.352C>T XP_011528307.1:p.Arg118Cys
XM_011530006.1:c.193C>T XP_011528308.1:p.Arg65Cys
XM_017028667.2:c.343C>T XP_016884156.1:p.Arg115Cys