Canonical Allele Identifier: CA236210

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 191188
• ClinVar RCV Id: RCV000171374 ; RCV003987411
• dbSNP Id: rs786205568
• gnomAD v4: 4-15596208-G-A
• MyVariant Identifiers: chr4:g.15597831G>A (hg19) ; chr4:g.15596208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596208G>A , CM000666.2:g.15596208G>A	GRCh38
NC_000004.11:g.15597831G>A , CM000666.1:g.15597831G>A	GRCh37
NC_000004.10:g.15206929G>A	NCBI36
NG_013035.1:g.131343G>A , LRG_697:g.131343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4473+1G>A	ENSP00000374303.8:n.4473+1G>A
ENST00000424120.6:c.4437+1G>A MANE Select	ENSP00000403465.1:n.4437+1G>A
ENST00000503292.6:c.4437+1G>A	ENSP00000421809.1:n.4437+1G>A
ENST00000506643.5:c.4290+1G>A	ENSP00000422931.2:n.4290+1G>A
ENST00000513035.2:n.336+1G>A
ENST00000514039.6:c.544-1199G>A	ENSP00000488534.2:n.544-1199G>A
ENST00000634028.2:c.4231+1G>A	ENSP00000488669.2:n.4231+1G>A
ENST00000650860.2:c.*1934+1G>A	ENSP00000498775.1:n.*1934+1G>A
ENST00000674945.1:c.4113+1G>A	ENSP00000502333.1:n.4113+1G>A
ENST00000680586.1:n.5096+1G>A
ENST00000389652.9:c.3935+1G>A
ENST00000424120.5:c.4437+1G>A	ENSP00000403465.1:n.4437+1G>A
ENST00000503292.5:c.4437+1G>A	ENSP00000421809.1:n.4437+1G>A
ENST00000506643.4:c.2706+1G>A
ENST00000513035.1:n.336+1G>A
ENST00000514039.5:c.54-1199G>A
ENST00000634028.1:c.4243+1G>A	ENSP00000488669.1:n.4243+1G>A
NM_001080522.2:c.4437+1G>A , LRG_697t1:c.4437+1G>A	NP_001073991.2:n.4437+1G>A
XM_005248177.1:c.4437+1G>A	XP_005248234.1:n.4437+1G>A
XM_011513869.1:c.4455+1G>A	XP_011512171.1:n.4455+1G>A
XM_011513870.1:c.4455+1G>A	XP_011512172.1:n.4455+1G>A
XM_011513871.1:c.4308+1G>A	XP_011512173.1:n.4308+1G>A
XM_017008482.1:c.4290+1G>A	XP_016863971.1:n.4290+1G>A
NM_001378615.1:c.4437+1G>A MANE Select	NP_001365544.1:n.4437+1G>A
NM_001378617.1:c.4290+1G>A	NP_001365546.1:n.4290+1G>A