Canonical Allele Identifier: CA1623782
Gene: MORN2 HGNC NCBI
COSMIC:
COSM3758230 (not active)
COSM3758231 (not active)
MyVariant.info:
GRCh38 chr2:g.38882417G>A
GRCh37 chr2:g.39109558G>A
Revel Score:
ENST00000340556 0.153
ENST00000410014 0.153
ENST00000409665 0.153
ENST00000409077 0.153
ENST00000409131 0.153
gnomAD v2:
2:39109558 G / A
gnomAD v3:
2:38882417 G / A
gnomAD v4:
chr2-38882417-G-A
Joint Max Group AF 0.15513792 (SAS)
Genomes Max Group AF 0.14180678 (SAS)
Exomes Max Group AF 0.15546696 (SAS)
dbSNP:
3099950
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38882417G>A , CM000664.2:g.38882417G>A GRCh38
NC_000002.11:g.39109558G>A , CM000664.1:g.39109558G>A GRCh37
NC_000002.10:g.38963062G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644631.4:c.358G>A MANE Select ENSP00000494143.2:p.Glu120Lys
ENST00000340556.11:c.142G>A ENSP00000344551.6:p.Glu48Lys
ENST00000644631.3:c.358G>A ENSP00000494143.2:p.Glu120Lys
ENST00000340556.10:c.142G>A ENSP00000344551.6:p.Glu48Lys
ENST00000409077.2:c.43G>A ENSP00000387161.2:p.Glu15Lys
ENST00000409131.2:c.76G>A ENSP00000387181.2:p.Glu26Lys
ENST00000409665.5:c.142G>A ENSP00000386874.1:p.Glu48Lys
ENST00000410014.5:c.142G>A ENSP00000386563.1:p.Glu48Lys
ENST00000441049.5:c.137+839G>A ENSP00000401340.1:n.137+839G>A
NM_001145450.1:c.142G>A NP_001138922.1:p.Glu48Lys
NM_001145450.3:c.358G>A MANE Select NP_001138922.2:p.Glu120Lys
Search 100 bp 5'
Search 100 bp 3'