Canonical Allele Identifier: CA10187232
Community Standard Title: NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30942180T>G , CM000684.2:g.30942180T>G GRCh38
NC_000022.10:g.31338167T>G , CM000684.1:g.31338167T>G GRCh37
NC_000022.9:g.29668167T>G NCBI36
NG_046752.1:g.31318A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.518A>C MANE Select NP_001290185.1:p.Tyr173Ser
ENST00000397641.8:c.518A>C MANE Select ENSP00000380763.2:p.Tyr173Ser
NM_001303256.1:c.518A>C NP_001290185.1:p.Tyr173Ser
NM_001303256.2:c.518A>C NP_001290185.1:p.Tyr173Ser
NM_001303257.1:c.518A>C NP_001290186.1:p.Tyr173Ser
NM_001303257.2:c.518A>C NP_001290186.1:p.Tyr173Ser
NM_014941.2:c.332A>C NP_055756.1:p.Tyr111Ser
NM_014941.3:c.332A>C NP_055756.1:p.Tyr111Ser
ENST00000215862.8:c.332A>C ENSP00000215862.4:p.Tyr111Ser
ENST00000397641.7:c.518A>C ENSP00000380763.2:p.Tyr173Ser
ENST00000469915.1:n.72A>C
ENST00000476152.2:n.640A>C
ENST00000675601.1:n.360A>C
XM_011530003.1:c.542A>C XP_011528305.1:p.Tyr181Ser
XM_011530004.1:c.533A>C XP_011528306.1:p.Tyr178Ser
XM_011530004.2:c.533A>C XP_011528306.1:p.Tyr178Ser
XM_011530005.1:c.542A>C XP_011528307.1:p.Tyr181Ser
XM_011530006.1:c.383A>C XP_011528308.1:p.Tyr128Ser
XM_017028667.2:c.533A>C XP_016884156.1:p.Tyr178Ser