Canonical Allele Identifier: CA10186775

Gene: MORC2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30934902A>G , CM000684.2:g.30934902A>G	GRCh38
NC_000022.10:g.31330889A>G , CM000684.1:g.31330889A>G	GRCh37
NC_000022.9:g.29660889A>G	NCBI36
NG_046752.1:g.38596T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001303256.3:c.2072T>C MANE Select	NP_001290185.1:p.Leu691Pro
ENST00000397641.8:c.2072T>C MANE Select	ENSP00000380763.2:p.Leu691Pro
NM_001303256.1:c.2072T>C	NP_001290185.1:p.Leu691Pro
NM_001303256.2:c.2072T>C	NP_001290185.1:p.Leu691Pro
NM_001303257.1:c.2072T>C	NP_001290186.1:p.Leu691Pro
NM_001303257.2:c.2072T>C	NP_001290186.1:p.Leu691Pro
NM_014941.2:c.1886T>C	NP_055756.1:p.Leu629Pro
NM_014941.3:c.1886T>C	NP_055756.1:p.Leu629Pro
ENST00000215862.8:c.1886T>C	ENSP00000215862.4:p.Leu629Pro
ENST00000397641.7:c.2072T>C	ENSP00000380763.2:p.Leu691Pro
ENST00000674576.1:n.3518T>C
ENST00000675317.1:n.493T>C
ENST00000675601.1:n.1914T>C
ENST00000676215.1:n.2915T>C
ENST00000676263.1:n.317T>C
XM_011530003.1:c.2096T>C	XP_011528305.1:p.Leu699Pro
XM_011530004.1:c.2087T>C	XP_011528306.1:p.Leu696Pro
XM_011530004.2:c.2087T>C	XP_011528306.1:p.Leu696Pro
XM_011530005.1:c.2096T>C	XP_011528307.1:p.Leu699Pro
XM_011530006.1:c.1937T>C	XP_011528308.1:p.Leu646Pro
XM_017028667.2:c.2087T>C	XP_016884156.1:p.Leu696Pro