Canonical Allele Identifier: CA279555

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 217620
• ClinVar RCV Id: RCV000201770 ; RCV000319494 ; RCV001853234
• dbSNP Id: rs863225181
• gnomAD v2: 4-15572124-G-A
• gnomAD v3: 4-15570501-G-A
• gnomAD v4: 4-15570501-G-A
• MyVariant Identifiers: chr4:g.15572124G>A (hg19) ; chr4:g.15570501G>A (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15570501G>A , CM000666.2:g.15570501G>A	GRCh38
NC_000004.11:g.15572124G>A , CM000666.1:g.15572124G>A	GRCh37
NC_000004.10:g.15181222G>A	NCBI36
NG_013035.1:g.105636G>A , LRG_697:g.105636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3609+5G>A	ENSP00000374303.8:n.3609+5G>A
ENST00000424120.6:c.3594+5G>A MANE Select	ENSP00000403465.1:n.3594+5G>A
ENST00000503292.6:c.3594+5G>A	ENSP00000421809.1:n.3594+5G>A
ENST00000506643.5:c.3447+5G>A	ENSP00000422931.2:n.3447+5G>A
ENST00000634028.2:c.3447+5G>A	ENSP00000488669.2:n.3447+5G>A
ENST00000650860.2:c.*600+5G>A	ENSP00000498775.1:n.*600+5G>A
ENST00000674945.1:c.3447+5G>A	ENSP00000502333.1:n.3447+5G>A
ENST00000675619.1:n.4405+5G>A
ENST00000675768.1:n.814+5G>A
ENST00000676337.1:c.*600+5G>A	ENSP00000501728.1:n.*600+5G>A
ENST00000680586.1:n.4253+5G>A
ENST00000389652.9:c.3071+5G>A
ENST00000424120.5:c.3594+5G>A	ENSP00000403465.1:n.3594+5G>A
ENST00000503292.5:c.3594+5G>A	ENSP00000421809.1:n.3594+5G>A
ENST00000506643.4:c.1922+5G>A
ENST00000634028.1:c.3577+5G>A	ENSP00000488669.1:n.3577+5G>A
NM_001080522.2:c.3594+5G>A , LRG_697t1:c.3594+5G>A	NP_001073991.2:n.3594+5G>A
XM_005248177.1:c.3594+5G>A	XP_005248234.1:n.3594+5G>A
XM_011513869.1:c.3594+5G>A	XP_011512171.1:n.3594+5G>A
XM_011513870.1:c.3594+5G>A	XP_011512172.1:n.3594+5G>A
XM_011513871.1:c.3447+5G>A	XP_011512173.1:n.3447+5G>A
XM_017008482.1:c.3447+5G>A	XP_016863971.1:n.3447+5G>A
XR_001741296.1:n.3839+5G>A
NM_001378615.1:c.3594+5G>A MANE Select	NP_001365544.1:n.3594+5G>A
NM_001378617.1:c.3447+5G>A	NP_001365546.1:n.3447+5G>A