Canonical Allele Identifier: CA10187205
Community Standard Title: NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30941991T>C , CM000684.2:g.30941991T>C GRCh38
NC_000022.10:g.31337978T>C , CM000684.1:g.31337978T>C GRCh37
NC_000022.9:g.29667978T>C NCBI36
NG_046752.1:g.31507A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.598A>G MANE Select NP_001290185.1:p.Ile200Val
ENST00000397641.8:c.598A>G MANE Select ENSP00000380763.2:p.Ile200Val
NM_001303256.1:c.598A>G NP_001290185.1:p.Ile200Val
NM_001303256.2:c.598A>G NP_001290185.1:p.Ile200Val
NM_001303257.1:c.598A>G NP_001290186.1:p.Ile200Val
NM_001303257.2:c.598A>G NP_001290186.1:p.Ile200Val
NM_014941.2:c.412A>G NP_055756.1:p.Ile138Val
NM_014941.3:c.412A>G NP_055756.1:p.Ile138Val
ENST00000215862.8:c.412A>G ENSP00000215862.4:p.Ile138Val
ENST00000397641.7:c.598A>G ENSP00000380763.2:p.Ile200Val
ENST00000469915.1:n.152A>G
ENST00000476152.2:n.720A>G
ENST00000675601.1:n.440A>G
XM_011530003.1:c.622A>G XP_011528305.1:p.Ile208Val
XM_011530004.1:c.613A>G XP_011528306.1:p.Ile205Val
XM_011530004.2:c.613A>G XP_011528306.1:p.Ile205Val
XM_011530005.1:c.622A>G XP_011528307.1:p.Ile208Val
XM_011530006.1:c.463A>G XP_011528308.1:p.Ile155Val
XM_017028667.2:c.613A>G XP_016884156.1:p.Ile205Val