Canonical Allele Identifier: CA279397

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 217594
• ClinVar RCV Id: RCV000201598 ; RCV003765301
• dbSNP Id: rs863225168
• MyVariant Identifiers: chr4:g.15591277T>C (hg19) ; chr4:g.15589654T>C (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589654T>C , CM000666.2:g.15589654T>C	GRCh38
NC_000004.11:g.15591277T>C , CM000666.1:g.15591277T>C	GRCh37
NC_000004.10:g.15200375T>C	NCBI36
NG_013035.1:g.124789T>C , LRG_697:g.124789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4325T>C	ENSP00000374303.8:p.Val1442Ala
ENST00000424120.6:c.4289T>C MANE Select	ENSP00000403465.1:p.Val1430Ala
ENST00000503292.6:c.4289T>C	ENSP00000421809.1:p.Val1430Ala
ENST00000506643.5:c.4142T>C	ENSP00000422931.2:p.Val1381Ala
ENST00000514039.6:c.518T>C	ENSP00000488534.2:p.Val173Ala
ENST00000634028.2:c.4142T>C	ENSP00000488669.2:p.Val1381Ala
ENST00000650860.2:c.*1786T>C	ENSP00000498775.1:n.*1786T>C
ENST00000674945.1:c.3965T>C	ENSP00000502333.1:p.Val1322Ala
ENST00000675768.1:n.1509T>C
ENST00000680586.1:n.4948T>C
ENST00000389652.9:c.3787T>C
ENST00000424120.5:c.4289T>C	ENSP00000403465.1:p.Val1430Ala
ENST00000503292.5:c.4289T>C	ENSP00000421809.1:p.Val1430Ala
ENST00000506643.4:c.2617T>C
ENST00000514039.5:c.28T>C
ENST00000634028.1:c.4095T>C	ENSP00000488669.1:n.4095T>C
NM_001080522.2:c.4289T>C , LRG_697t1:c.4289T>C	NP_001073991.2:p.Val1430Ala
XM_005248177.1:c.4289T>C	XP_005248234.1:p.Val1430Ala
XM_011513869.1:c.4307T>C	XP_011512171.1:p.Val1436Ala
XM_011513870.1:c.4307T>C	XP_011512172.1:p.Val1436Ala
XM_011513871.1:c.4160T>C	XP_011512173.1:p.Val1387Ala
XM_017008482.1:c.4142T>C	XP_016863971.1:p.Val1381Ala
NM_001378615.1:c.4289T>C MANE Select	NP_001365544.1:p.Val1430Ala
NM_001378617.1:c.4142T>C	NP_001365546.1:p.Val1381Ala