Canonical Allele Identifier: CA411228593

Gene: MORC2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30926808C>A , CM000684.2:g.30926808C>A	GRCh38
NC_000022.10:g.31322795C>A , CM000684.1:g.31322795C>A	GRCh37
NC_000022.9:g.29652795C>A	NCBI36
NG_046752.1:g.46690G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001303256.3:c.3094G>T MANE Select	NP_001290185.1:p.Asp1032Tyr
ENST00000397641.8:c.3094G>T MANE Select	ENSP00000380763.2:p.Asp1032Tyr
NM_001303256.1:c.3094G>T	NP_001290185.1:p.Asp1032Tyr
NM_001303256.2:c.3094G>T	NP_001290185.1:p.Asp1032Tyr
NM_001303257.1:c.3085G>T	NP_001290186.1:p.Asp1029Tyr
NM_001303257.2:c.3085G>T	NP_001290186.1:p.Asp1029Tyr
NM_014941.2:c.2908G>T	NP_055756.1:p.Asp970Tyr
NM_014941.3:c.2908G>T	NP_055756.1:p.Asp970Tyr
ENST00000215862.8:c.2908G>T	ENSP00000215862.4:p.Asp970Tyr
ENST00000397641.7:c.3094G>T	ENSP00000380763.2:p.Asp1032Tyr
ENST00000429468.5:c.265G>T	ENSP00000412685.1:p.Asp89Tyr
ENST00000445980.5:c.569G>T
ENST00000674576.1:n.4540G>T
ENST00000674585.1:n.770G>T
ENST00000675027.1:n.1631G>T
ENST00000675317.1:n.1506G>T
ENST00000675402.1:n.726G>T
ENST00000675570.1:c.941G>T
ENST00000675601.1:n.2936G>T
ENST00000675779.1:c.716G>T	ENSP00000502216.1:n.716G>T
ENST00000675798.1:n.846G>T
ENST00000676215.1:n.3937G>T
ENST00000676263.1:n.1339G>T
XM_011530003.1:c.3118G>T	XP_011528305.1:p.Asp1040Tyr
XM_011530004.1:c.3109G>T	XP_011528306.1:p.Asp1037Tyr
XM_011530004.2:c.3109G>T	XP_011528306.1:p.Asp1037Tyr
XM_011530005.1:c.3109G>T	XP_011528307.1:p.Asp1037Tyr
XM_011530006.1:c.2959G>T	XP_011528308.1:p.Asp987Tyr
XM_017028667.2:c.3100G>T	XP_016884156.1:p.Asp1034Tyr