Canonical Allele Identifier: CA2863421

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 2923797
• ClinVar RCV Id: RCV003783355
• dbSNP Id: rs770874942
• ExAC: 4:15511830 T / C
• gnomAD v2: 4-15511830-T-C
• gnomAD v3: 4-15510207-T-C
• gnomAD v4: 4-15510207-T-C
• MyVariant Identifiers: chr4:g.15511830T>C (hg19) ; chr4:g.15510207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15510207T>C , CM000666.2:g.15510207T>C	GRCh38
NC_000004.11:g.15511830T>C , CM000666.1:g.15511830T>C	GRCh37
NC_000004.10:g.15120928T>C	NCBI36
NG_013035.1:g.45342T>C , LRG_697:g.45342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.507T>C	ENSP00000374303.8:p.His169=
ENST00000424120.6:c.507T>C MANE Select	ENSP00000403465.1:p.His169=
ENST00000503292.6:c.507T>C	ENSP00000421809.1:p.His169=
ENST00000506643.5:c.360T>C	ENSP00000422931.2:p.His120=
ENST00000512702.6:c.507T>C	ENSP00000422875.2:p.His169=
ENST00000514450.3:c.507T>C	ENSP00000502062.1:p.His169=
ENST00000634028.2:c.360T>C	ENSP00000488669.2:p.His120=
ENST00000650860.2:c.360T>C	ENSP00000498775.1:p.His120=
ENST00000651385.1:c.360T>C	ENSP00000499005.1:p.His120=
ENST00000674945.1:c.360T>C	ENSP00000502333.1:p.His120=
ENST00000676337.1:c.360T>C	ENSP00000501728.1:p.His120=
ENST00000424120.5:c.507T>C	ENSP00000403465.1:p.His169=
ENST00000503292.5:c.507T>C	ENSP00000421809.1:p.His169=
ENST00000512702.5:c.507T>C	ENSP00000422875.1:p.His169=
ENST00000513811.5:n.687T>C
ENST00000514450.2:n.662T>C
ENST00000634028.1:c.490T>C	ENSP00000488669.1:n.490T>C
NM_001080522.2:c.507T>C , LRG_697t1:c.507T>C	NP_001073991.2:p.His169=
XM_005248177.1:c.507T>C	XP_005248234.1:p.His169=
XM_011513869.1:c.507T>C	XP_011512171.1:p.His169=
XM_011513870.1:c.507T>C	XP_011512172.1:p.His169=
XM_011513871.1:c.360T>C	XP_011512173.1:p.His120=
XM_011513872.1:c.507T>C	XP_011512174.1:p.His169=
XM_011513873.1:c.507T>C	XP_011512175.1:p.His169=
XM_011513872.3:c.507T>C	XP_011512174.1:p.His169=
XM_017008482.1:c.360T>C	XP_016863971.1:p.His120=
XR_001741296.1:n.707T>C
NM_001378615.1:c.507T>C MANE Select	NP_001365544.1:p.His169=
NM_001378617.1:c.360T>C	NP_001365546.1:p.His120=