Canonical Allele Identifier: CA2863850

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 290432
• ClinVar RCV Id: RCV001087966 ; RCV000726483 ; RCV001145226 ; RCV001145225 ; RCV004537612
• dbSNP Id: rs778205727
• ExAC: 4:15542573 G / A
• gnomAD v2: 4-15542573-G-A
• gnomAD v3: 4-15540950-G-A
• gnomAD v4: 4-15540950-G-A
• MyVariant Identifiers: chr4:g.15542573G>A (hg19) ; chr4:g.15540950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540950G>A , CM000666.2:g.15540950G>A	GRCh38
NC_000004.11:g.15542573G>A , CM000666.1:g.15542573G>A	GRCh37
NC_000004.10:g.15151671G>A	NCBI36
NG_013035.1:g.76085G>A , LRG_697:g.76085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2117G>A	ENSP00000374303.8:p.Arg706Gln
ENST00000424120.6:c.2117G>A MANE Select	ENSP00000403465.1:p.Arg706Gln
ENST00000503292.6:c.2117G>A	ENSP00000421809.1:p.Arg706Gln
ENST00000506643.5:c.1970G>A	ENSP00000422931.2:p.Arg657Gln
ENST00000634028.2:c.1970G>A	ENSP00000488669.2:p.Arg657Gln
ENST00000650860.2:c.1970G>A	ENSP00000498775.1:p.Arg657Gln
ENST00000674945.1:c.1970G>A	ENSP00000502333.1:p.Arg657Gln
ENST00000675619.1:n.196G>A
ENST00000676337.1:c.1970G>A	ENSP00000501728.1:p.Arg657Gln
ENST00000680586.1:n.44G>A
ENST00000389652.9:c.1579G>A
ENST00000424120.5:c.2117G>A	ENSP00000403465.1:p.Arg706Gln
ENST00000503292.5:c.2117G>A	ENSP00000421809.1:p.Arg706Gln
ENST00000506643.4:c.445G>A
ENST00000513811.5:n.2297G>A
ENST00000634028.1:c.2100G>A	ENSP00000488669.1:n.2100G>A
NM_001080522.2:c.2117G>A , LRG_697t1:c.2117G>A	NP_001073991.2:p.Arg706Gln
XM_005248177.1:c.2117G>A	XP_005248234.1:p.Arg706Gln
XM_011513869.1:c.2117G>A	XP_011512171.1:p.Arg706Gln
XM_011513870.1:c.2117G>A	XP_011512172.1:p.Arg706Gln
XM_011513871.1:c.1970G>A	XP_011512173.1:p.Arg657Gln
XM_011513872.1:c.2117G>A	XP_011512174.1:p.Arg706Gln
XM_011513873.1:c.2117G>A	XP_011512175.1:p.Arg706Gln
XM_011513872.3:c.2117G>A	XP_011512174.1:p.Arg706Gln
XM_017008482.1:c.1970G>A	XP_016863971.1:p.Arg657Gln
XR_001741296.1:n.2317G>A
NM_001378615.1:c.2117G>A MANE Select	NP_001365544.1:p.Arg706Gln
NM_001378617.1:c.1970G>A	NP_001365546.1:p.Arg657Gln