Canonical Allele Identifier: CA144221

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 56302
• ClinVar RCV Id: RCV000049714
• dbSNP Id: rs386833750
• MyVariant Identifiers: chr4:g.15565108C>G (hg19) ; chr4:g.15563485C>G (hg38)
• PubMed: PMID:19777577

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15563485C>G , CM000666.2:g.15563485C>G	GRCh38
NC_000004.11:g.15565108C>G , CM000666.1:g.15565108C>G	GRCh37
NC_000004.10:g.15174206C>G	NCBI36
NG_013035.1:g.98620C>G , LRG_697:g.98620C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3160C>G	ENSP00000374303.8:p.Arg1054Gly
ENST00000424120.6:c.3145C>G MANE Select	ENSP00000403465.1:p.Arg1049Gly
ENST00000503292.6:c.3145C>G	ENSP00000421809.1:p.Arg1049Gly
ENST00000506643.5:c.2998C>G	ENSP00000422931.2:p.Arg1000Gly
ENST00000634028.2:c.2998C>G	ENSP00000488669.2:p.Arg1000Gly
ENST00000650860.2:c.*151C>G	ENSP00000498775.1:n.*151C>G
ENST00000674945.1:c.2998C>G	ENSP00000502333.1:p.Arg1000Gly
ENST00000675619.1:n.3956C>G
ENST00000675768.1:n.365C>G
ENST00000676337.1:c.*151C>G	ENSP00000501728.1:n.*151C>G
ENST00000680586.1:n.3804C>G
ENST00000389652.9:c.2622C>G
ENST00000424120.5:c.3145C>G	ENSP00000403465.1:p.Arg1049Gly
ENST00000503292.5:c.3145C>G	ENSP00000421809.1:p.Arg1049Gly
ENST00000506643.4:c.1473C>G
ENST00000634028.1:c.3128C>G	ENSP00000488669.1:n.3128C>G
NM_001080522.2:c.3145C>G , LRG_697t1:c.3145C>G	NP_001073991.2:p.Arg1049Gly
XM_005248177.1:c.3145C>G	XP_005248234.1:p.Arg1049Gly
XM_011513869.1:c.3145C>G	XP_011512171.1:p.Arg1049Gly
XM_011513870.1:c.3145C>G	XP_011512172.1:p.Arg1049Gly
XM_011513871.1:c.2998C>G	XP_011512173.1:p.Arg1000Gly
XM_017008482.1:c.2998C>G	XP_016863971.1:p.Arg1000Gly
XR_001741296.1:n.3390C>G
NM_001378615.1:c.3145C>G MANE Select	NP_001365544.1:p.Arg1049Gly
NM_001378617.1:c.2998C>G	NP_001365546.1:p.Arg1000Gly