Canonical Allele Identifier: CA2864494

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 257381
• ClinVar RCV Id: RCV000251518 ; RCV000276457 ; RCV000371188 ; RCV000326813 ; RCV001548136
• dbSNP Id: rs199945435
• ExAC: 4:15603049 T / A
• gnomAD v2: 4-15603049-T-A
• gnomAD v3: 4-15601426-T-A
• gnomAD v4: 4-15601426-T-A
• MyVariant Identifiers: chr4:g.15603049T>A (hg19) ; chr4:g.15601426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15601426T>A , CM000666.2:g.15601426T>A	GRCh38
NC_000004.11:g.15603049T>A , CM000666.1:g.15603049T>A	GRCh37
NC_000004.10:g.15212147T>A	NCBI36
NG_013035.1:g.136561T>A , LRG_697:g.136561T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.*1T>A	ENSP00000374303.8:n.*1T>A
ENST00000424120.6:c.*1T>A MANE Select	ENSP00000403465.1:n.*1T>A
ENST00000503292.6:c.*1T>A	ENSP00000421809.1:n.*1T>A
ENST00000506643.5:c.*1T>A	ENSP00000422931.2:n.*1T>A
ENST00000634028.2:c.4658T>A	ENSP00000488669.2:n.4658T>A
ENST00000650860.2:c.*2361T>A	ENSP00000498775.1:n.*2361T>A
ENST00000674945.1:c.*1T>A	ENSP00000502333.1:n.*1T>A
ENST00000389652.9:c.4362T>A
ENST00000424120.5:c.*1T>A	ENSP00000403465.1:n.*1T>A
ENST00000503292.5:c.*1T>A	ENSP00000421809.1:n.*1T>A
ENST00000506643.4:c.3133T>A
ENST00000634028.1:c.4670T>A	ENSP00000488669.1:n.4670T>A
NM_001080522.2:c.*1T>A , LRG_697t1:c.*1T>A	NP_001073991.2:n.*1T>A
XM_005248177.1:c.*1T>A	XP_005248234.1:n.*1T>A
XM_011513869.1:c.*1T>A	XP_011512171.1:n.*1T>A
XM_011513870.1:c.*1T>A	XP_011512172.1:n.*1T>A
XM_011513871.1:c.*1T>A	XP_011512173.1:n.*1T>A
XM_017008482.1:c.*1T>A	XP_016863971.1:n.*1T>A
NM_001378615.1:c.*1T>A MANE Select	NP_001365544.1:n.*1T>A
NM_001378617.1:c.*1T>A	NP_001365546.1:n.*1T>A