Canonical Allele Identifier: CA2864358

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 502359
• ClinVar RCV Id: RCV000593757 ; RCV001146865 ; RCV001146866 ; RCV001474086 ; RCV001755983
• dbSNP Id: rs146843542
• ExAC: 4:15591226 G / A
• gnomAD v2: 4-15591226-G-A
• gnomAD v3: 4-15589603-G-A
• gnomAD v4: 4-15589603-G-A
• MyVariant Identifiers: chr4:g.15591226G>A (hg19) ; chr4:g.15589603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589603G>A , CM000666.2:g.15589603G>A	GRCh38
NC_000004.11:g.15591226G>A , CM000666.1:g.15591226G>A	GRCh37
NC_000004.10:g.15200324G>A	NCBI36
NG_013035.1:g.124738G>A , LRG_697:g.124738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4274G>A	ENSP00000374303.8:p.Cys1425Tyr
ENST00000424120.6:c.4238G>A MANE Select	ENSP00000403465.1:p.Cys1413Tyr
ENST00000503292.6:c.4238G>A	ENSP00000421809.1:p.Cys1413Tyr
ENST00000506643.5:c.4091G>A	ENSP00000422931.2:p.Cys1364Tyr
ENST00000514039.6:c.467G>A	ENSP00000488534.2:p.Cys156Tyr
ENST00000634028.2:c.4091G>A	ENSP00000488669.2:p.Cys1364Tyr
ENST00000650860.2:c.*1735G>A	ENSP00000498775.1:n.*1735G>A
ENST00000674945.1:c.3914G>A	ENSP00000502333.1:p.Cys1305Tyr
ENST00000675768.1:n.1458G>A
ENST00000680586.1:n.4897G>A
ENST00000389652.9:c.3736G>A
ENST00000424120.5:c.4238G>A	ENSP00000403465.1:p.Cys1413Tyr
ENST00000503292.5:c.4238G>A	ENSP00000421809.1:p.Cys1413Tyr
ENST00000506643.4:c.2566G>A
ENST00000634028.1:c.4044G>A	ENSP00000488669.1:n.4044G>A
NM_001080522.2:c.4238G>A , LRG_697t1:c.4238G>A	NP_001073991.2:p.Cys1413Tyr
XM_005248177.1:c.4238G>A	XP_005248234.1:p.Cys1413Tyr
XM_011513869.1:c.4256G>A	XP_011512171.1:p.Cys1419Tyr
XM_011513870.1:c.4256G>A	XP_011512172.1:p.Cys1419Tyr
XM_011513871.1:c.4109G>A	XP_011512173.1:p.Cys1370Tyr
XM_017008482.1:c.4091G>A	XP_016863971.1:p.Cys1364Tyr
NM_001378615.1:c.4238G>A MANE Select	NP_001365544.1:p.Cys1413Tyr
NM_001378617.1:c.4091G>A	NP_001365546.1:p.Cys1364Tyr