Canonical Allele Identifier: CA411234540

Gene: MORC2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30934840G>A , CM000684.2:g.30934840G>A	GRCh38
NC_000022.10:g.31330827G>A , CM000684.1:g.31330827G>A	GRCh37
NC_000022.9:g.29660827G>A	NCBI36
NG_046752.1:g.38658C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001303256.3:c.2134C>T MANE Select	NP_001290185.1:p.Pro712Ser
ENST00000397641.8:c.2134C>T MANE Select	ENSP00000380763.2:p.Pro712Ser
NM_001303256.1:c.2134C>T	NP_001290185.1:p.Pro712Ser
NM_001303256.2:c.2134C>T	NP_001290185.1:p.Pro712Ser
NM_001303257.1:c.2134C>T	NP_001290186.1:p.Pro712Ser
NM_001303257.2:c.2134C>T	NP_001290186.1:p.Pro712Ser
NM_014941.2:c.1948C>T	NP_055756.1:p.Pro650Ser
NM_014941.3:c.1948C>T	NP_055756.1:p.Pro650Ser
ENST00000215862.8:c.1948C>T	ENSP00000215862.4:p.Pro650Ser
ENST00000397641.7:c.2134C>T	ENSP00000380763.2:p.Pro712Ser
ENST00000674576.1:n.3580C>T
ENST00000675317.1:n.555C>T
ENST00000675601.1:n.1976C>T
ENST00000676215.1:n.2977C>T
ENST00000676263.1:n.379C>T
XM_011530003.1:c.2158C>T	XP_011528305.1:p.Pro720Ser
XM_011530004.1:c.2149C>T	XP_011528306.1:p.Pro717Ser
XM_011530004.2:c.2149C>T	XP_011528306.1:p.Pro717Ser
XM_011530005.1:c.2158C>T	XP_011528307.1:p.Pro720Ser
XM_011530006.1:c.1999C>T	XP_011528308.1:p.Pro667Ser
XM_017028667.2:c.2149C>T	XP_016884156.1:p.Pro717Ser