Canonical Allele Identifier: CA411238932
Community Standard Title: NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30937913G>C , CM000684.2:g.30937913G>C GRCh38
NC_000022.10:g.31333900G>C , CM000684.1:g.31333900G>C GRCh37
NC_000022.9:g.29663900G>C NCBI36
NG_046752.1:g.35585C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1271C>G MANE Select NP_001290185.1:p.Thr424Arg
ENST00000397641.8:c.1271C>G MANE Select ENSP00000380763.2:p.Thr424Arg
NM_001303256.1:c.1271C>G NP_001290185.1:p.Thr424Arg
NM_001303256.2:c.1271C>G NP_001290185.1:p.Thr424Arg
NM_001303257.1:c.1271C>G NP_001290186.1:p.Thr424Arg
NM_001303257.2:c.1271C>G NP_001290186.1:p.Thr424Arg
NM_014941.2:c.1085C>G NP_055756.1:p.Thr362Arg
NM_014941.3:c.1085C>G NP_055756.1:p.Thr362Arg
ENST00000215862.8:c.1085C>G ENSP00000215862.4:p.Thr362Arg
ENST00000397641.7:c.1271C>G ENSP00000380763.2:p.Thr424Arg
ENST00000469915.1:n.459-911C>G
ENST00000674576.1:n.2717C>G
ENST00000675601.1:n.1113C>G
ENST00000676215.1:n.2114C>G
XM_011530003.1:c.1295C>G XP_011528305.1:p.Thr432Arg
XM_011530004.1:c.1286C>G XP_011528306.1:p.Thr429Arg
XM_011530004.2:c.1286C>G XP_011528306.1:p.Thr429Arg
XM_011530005.1:c.1295C>G XP_011528307.1:p.Thr432Arg
XM_011530006.1:c.1136C>G XP_011528308.1:p.Thr379Arg
XM_017028667.2:c.1286C>G XP_016884156.1:p.Thr429Arg