Canonical Allele Identifier: CA10187173
Community Standard Title: NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30941524C>T , CM000684.2:g.30941524C>T GRCh38
NC_000022.10:g.31337511C>T , CM000684.1:g.31337511C>T GRCh37
NC_000022.9:g.29667511C>T NCBI36
NG_046752.1:g.31974G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.733G>A MANE Select NP_001290185.1:p.Ala245Thr
ENST00000397641.8:c.733G>A MANE Select ENSP00000380763.2:p.Ala245Thr
NM_001303256.1:c.733G>A NP_001290185.1:p.Ala245Thr
NM_001303256.2:c.733G>A NP_001290185.1:p.Ala245Thr
NM_001303257.1:c.733G>A NP_001290186.1:p.Ala245Thr
NM_001303257.2:c.733G>A NP_001290186.1:p.Ala245Thr
NM_014941.2:c.547G>A NP_055756.1:p.Ala183Thr
NM_014941.3:c.547G>A NP_055756.1:p.Ala183Thr
ENST00000215862.8:c.547G>A ENSP00000215862.4:p.Ala183Thr
ENST00000397641.7:c.733G>A ENSP00000380763.2:p.Ala245Thr
ENST00000469915.1:n.287G>A
ENST00000675601.1:n.575G>A
XM_011530003.1:c.757G>A XP_011528305.1:p.Ala253Thr
XM_011530004.1:c.748G>A XP_011528306.1:p.Ala250Thr
XM_011530004.2:c.748G>A XP_011528306.1:p.Ala250Thr
XM_011530005.1:c.757G>A XP_011528307.1:p.Ala253Thr
XM_011530006.1:c.598G>A XP_011528308.1:p.Ala200Thr
XM_017028667.2:c.748G>A XP_016884156.1:p.Ala250Thr