Canonical Allele Identifier: CA2864138

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 593930
• ClinVar RCV Id: RCV000729105 ; RCV001862166
• dbSNP Id: rs774235067
• ExAC: 4:15569296 TA / T
• gnomAD v2: 4-15569296-TA-T
• gnomAD v3: 4-15567673-TA-T
• gnomAD v4: 4-15567673-TA-T
• MyVariant Identifiers: chr4:g.15569297del (hg19) ; chr4:g.15567674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567675del , CM000666.2:g.15567675del	GRCh38
NC_000004.11:g.15569298del , CM000666.1:g.15569298del	GRCh37
NC_000004.10:g.15178396del	NCBI36
NG_013035.1:g.102810del , LRG_697:g.102810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3304-2del	ENSP00000374303.8:n.3304-2del
ENST00000424120.6:c.3289-2del MANE Select	ENSP00000403465.1:n.3289-2del
ENST00000503292.6:c.3289-2del	ENSP00000421809.1:n.3289-2del
ENST00000506643.5:c.3142-2del	ENSP00000422931.2:n.3142-2del
ENST00000634028.2:c.3142-2del	ENSP00000488669.2:n.3142-2del
ENST00000650860.2:c.*295-2del	ENSP00000498775.1:n.*295-2del
ENST00000674945.1:c.3142-2del	ENSP00000502333.1:n.3142-2del
ENST00000675619.1:n.4100-2del
ENST00000675768.1:n.509-2del
ENST00000676337.1:c.*295-2del	ENSP00000501728.1:n.*295-2del
ENST00000680586.1:n.3948-2del
ENST00000389652.9:c.2766-2del
ENST00000424120.5:c.3289-2del	ENSP00000403465.1:n.3289-2del
ENST00000503292.5:c.3289-2del	ENSP00000421809.1:n.3289-2del
ENST00000506643.4:c.1617-2del
ENST00000634028.1:c.3272-2del	ENSP00000488669.1:n.3272-2del
NM_001080522.2:c.3289-2del , LRG_697t1:c.3289-2del	NP_001073991.2:n.3289-2del
XM_005248177.1:c.3289-2del	XP_005248234.1:n.3289-2del
XM_011513869.1:c.3289-2del	XP_011512171.1:n.3289-2del
XM_011513870.1:c.3289-2del	XP_011512172.1:n.3289-2del
XM_011513871.1:c.3142-2del	XP_011512173.1:n.3142-2del
XM_017008482.1:c.3142-2del	XP_016863971.1:n.3142-2del
XR_001741296.1:n.3534-2del
NM_001378615.1:c.3289-2del MANE Select	NP_001365544.1:n.3289-2del
NM_001378617.1:c.3142-2del	NP_001365546.1:n.3142-2del