Canonical Allele Identifier: CA411238890
Community Standard Title: NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30937904T>C , CM000684.2:g.30937904T>C GRCh38
NC_000022.10:g.31333891T>C , CM000684.1:g.31333891T>C GRCh37
NC_000022.9:g.29663891T>C NCBI36
NG_046752.1:g.35594A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.1280A>G MANE Select NP_001290185.1:p.Lys427Arg
ENST00000397641.8:c.1280A>G MANE Select ENSP00000380763.2:p.Lys427Arg
NM_001303256.1:c.1280A>G NP_001290185.1:p.Lys427Arg
NM_001303256.2:c.1280A>G NP_001290185.1:p.Lys427Arg
NM_001303257.1:c.1280A>G NP_001290186.1:p.Lys427Arg
NM_001303257.2:c.1280A>G NP_001290186.1:p.Lys427Arg
NM_014941.2:c.1094A>G NP_055756.1:p.Lys365Arg
NM_014941.3:c.1094A>G NP_055756.1:p.Lys365Arg
ENST00000215862.8:c.1094A>G ENSP00000215862.4:p.Lys365Arg
ENST00000397641.7:c.1280A>G ENSP00000380763.2:p.Lys427Arg
ENST00000469915.1:n.459-902A>G
ENST00000674576.1:n.2726A>G
ENST00000675601.1:n.1122A>G
ENST00000676215.1:n.2123A>G
XM_011530003.1:c.1304A>G XP_011528305.1:p.Lys435Arg
XM_011530004.1:c.1295A>G XP_011528306.1:p.Lys432Arg
XM_011530004.2:c.1295A>G XP_011528306.1:p.Lys432Arg
XM_011530005.1:c.1304A>G XP_011528307.1:p.Lys435Arg
XM_011530006.1:c.1145A>G XP_011528308.1:p.Lys382Arg
XM_017028667.2:c.1295A>G XP_016884156.1:p.Lys432Arg