Canonical Allele Identifier: CA129547

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 30934
• ClinVar RCV Id: RCV000023923 ; RCV000594523 ; RCV001852033 ; RCV004532401
• dbSNP Id: rs387907058
• gnomAD v2: 4-15597733-A-C
• gnomAD v3: 4-15596110-A-C
• gnomAD v4: 4-15596110-A-C
• MyVariant Identifiers: chr4:g.15597733A>C (hg19) ; chr4:g.15596110A>C (hg38)
• PubMed: PMID:22246503

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596110A>C , CM000666.2:g.15596110A>C	GRCh38
NC_000004.11:g.15597733A>C , CM000666.1:g.15597733A>C	GRCh37
NC_000004.10:g.15206831A>C	NCBI36
NG_013035.1:g.131245A>C , LRG_697:g.131245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4376A>C	ENSP00000374303.8:p.Glu1459Ala
ENST00000424120.6:c.4340A>C MANE Select	ENSP00000403465.1:p.Glu1447Ala
ENST00000503292.6:c.4340A>C	ENSP00000421809.1:p.Glu1447Ala
ENST00000506643.5:c.4193A>C	ENSP00000422931.2:p.Glu1398Ala
ENST00000513035.2:n.239A>C
ENST00000514039.6:c.544-1297A>C	ENSP00000488534.2:n.544-1297A>C
ENST00000634028.2:c.4168-34A>C	ENSP00000488669.2:n.4168-34A>C
ENST00000650860.2:c.*1837A>C	ENSP00000498775.1:n.*1837A>C
ENST00000674945.1:c.4016A>C	ENSP00000502333.1:p.Glu1339Ala
ENST00000680586.1:n.4999A>C
ENST00000389652.9:c.3838A>C
ENST00000424120.5:c.4340A>C	ENSP00000403465.1:p.Glu1447Ala
ENST00000503292.5:c.4340A>C	ENSP00000421809.1:p.Glu1447Ala
ENST00000506643.4:c.2643-34A>C
ENST00000513035.1:n.239A>C
ENST00000514039.5:c.54-1297A>C
ENST00000634028.1:c.4146A>C	ENSP00000488669.1:n.4146A>C
NM_001080522.2:c.4340A>C , LRG_697t1:c.4340A>C	NP_001073991.2:p.Glu1447Ala
XM_005248177.1:c.4340A>C	XP_005248234.1:p.Glu1447Ala
XM_011513869.1:c.4358A>C	XP_011512171.1:p.Glu1453Ala
XM_011513870.1:c.4358A>C	XP_011512172.1:p.Glu1453Ala
XM_011513871.1:c.4211A>C	XP_011512173.1:p.Glu1404Ala
XM_017008482.1:c.4193A>C	XP_016863971.1:p.Glu1398Ala
NM_001378615.1:c.4340A>C MANE Select	NP_001365544.1:p.Glu1447Ala
NM_001378617.1:c.4193A>C	NP_001365546.1:p.Glu1398Ala