Canonical Allele Identifier: CA411534742
Community Standard Title: NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)
Gene: MORC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30958692G>A , CM000684.2:g.30958692G>A GRCh38
NC_000022.10:g.31354678G>A , CM000684.1:g.31354678G>A GRCh37
NC_000022.9:g.29684678G>A NCBI36
NG_046752.1:g.14806C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303256.3:c.71C>T MANE Select NP_001290185.1:p.Thr24Ile
ENST00000397641.8:c.71C>T MANE Select ENSP00000380763.2:p.Thr24Ile
NM_001303256.1:c.71C>T NP_001290185.1:p.Thr24Ile
NM_001303256.2:c.71C>T NP_001290185.1:p.Thr24Ile
NM_001303257.1:c.71C>T NP_001290186.1:p.Thr24Ile
NM_001303257.2:c.71C>T NP_001290186.1:p.Thr24Ile
NM_014941.2:c.-116C>T NP_055756.1:n.-116C>T
NM_014941.3:c.-116C>T NP_055756.1:n.-116C>T
ENST00000215862.8:c.-116C>T ENSP00000215862.4:n.-116C>T
ENST00000397641.7:c.71C>T ENSP00000380763.2:p.Thr24Ile
ENST00000476152.2:n.193C>T
XM_011530003.1:c.71C>T XP_011528305.1:p.Thr24Ile
XM_011530004.1:c.71C>T XP_011528306.1:p.Thr24Ile
XM_011530004.2:c.71C>T XP_011528306.1:p.Thr24Ile
XM_011530005.1:c.71C>T XP_011528307.1:p.Thr24Ile
XM_011530006.1:c.-89C>T XP_011528308.1:n.-89C>T
XM_017028667.2:c.71C>T XP_016884156.1:p.Thr24Ile