Canonical Allele Identifier: CA10301204

Gene: CRELD2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49924360A>C , CM000684.2:g.49924360A>C	GRCh38
NC_000022.10:g.50318008A>C , CM000684.1:g.50318008A>C	GRCh37
NC_000022.9:g.48704012A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024324.5:c.773A>C MANE Select	NP_077300.3:p.Glu258Ala
ENST00000328268.9:c.773A>C MANE Select	ENSP00000332223.4:p.Glu258Ala
NM_001135101.2:c.920A>C	NP_001128573.1:p.Glu307Ala
NM_001135101.3:c.920A>C	NP_001128573.1:p.Glu307Ala
NM_001284317.1:c.689A>C	NP_001271246.1:p.Glu230Ala
NM_001284317.2:c.689A>C	NP_001271246.1:p.Glu230Ala
NM_001284318.1:c.772+1043A>C	NP_001271247.1:n.772+1043A>C
NM_001284318.2:c.772+1043A>C	NP_001271247.1:n.772+1043A>C
NM_024324.4:c.773A>C	NP_077300.3:p.Glu258Ala
NR_104295.1:n.1056A>C
NR_104295.2:n.1052A>C
ENST00000328268.8:c.773A>C	ENSP00000332223.4:p.Glu258Ala
ENST00000403427.3:c.689A>C	ENSP00000384111.3:p.Glu230Ala
ENST00000404488.7:c.920A>C	ENSP00000383938.3:p.Glu307Ala
ENST00000407217.7:c.772+1043A>C	ENSP00000386034.3:n.772+1043A>C
ENST00000444954.1:n.359A>C
ENST00000483652.5:n.810A>C
ENST00000487969.1:n.1151A>C
XM_005261737.1:c.923A>C	XP_005261794.1:p.Glu308Ala
XM_005261737.3:c.923A>C	XP_005261794.1:p.Glu308Ala
XM_005261738.3:c.773A>C	XP_005261795.1:p.Glu258Ala
XM_005261738.5:c.773A>C	XP_005261795.1:p.Glu258Ala
XM_017028938.1:c.470A>C	XP_016884427.1:p.Glu157Ala