Canonical Allele Identifier: CA1059637710

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1426178
• ClinVar RCV Id: RCV001929275
• dbSNP Id: rs1718395356
• gnomAD v3: 4-15540904-AAGG-A
• gnomAD v4: 4-15540904-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540908_15540910del , CM000666.2:g.15540908_15540910del	GRCh38
NC_000004.11:g.15542531_15542533del , CM000666.1:g.15542531_15542533del	GRCh37
NC_000004.10:g.15151629_15151631del	NCBI36
NG_013035.1:g.76043_76045del , LRG_697:g.76043_76045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.2075_2077del	ENSP00000374303.8:p.Glu692del
ENST00000424120.6:c.2075_2077del MANE Select	ENSP00000403465.1:p.Glu692del
ENST00000503292.6:c.2075_2077del	ENSP00000421809.1:p.Glu692del
ENST00000506643.5:c.1928_1930del	ENSP00000422931.2:p.Glu643del
ENST00000634028.2:c.1928_1930del	ENSP00000488669.2:p.Glu643del
ENST00000650860.2:c.1928_1930del	ENSP00000498775.1:p.Glu643del
ENST00000674945.1:c.1928_1930del	ENSP00000502333.1:p.Glu643del
ENST00000675619.1:n.154_156del
ENST00000676337.1:c.1928_1930del	ENSP00000501728.1:p.Glu643del
ENST00000389652.9:c.1537_1539del
ENST00000424120.5:c.2075_2077del	ENSP00000403465.1:p.Glu692del
ENST00000503292.5:c.2075_2077del	ENSP00000421809.1:p.Glu692del
ENST00000506643.4:c.403_405del
ENST00000513811.5:n.2255_2257del
ENST00000634028.1:c.2058_2060del	ENSP00000488669.1:n.2058_2060del
NM_001080522.2:c.2075_2077del , LRG_697t1:c.2075_2077del	NP_001073991.2:p.Glu692del
XM_005248177.1:c.2075_2077del	XP_005248234.1:p.Glu692del
XM_011513869.1:c.2075_2077del	XP_011512171.1:p.Glu692del
XM_011513870.1:c.2075_2077del	XP_011512172.1:p.Glu692del
XM_011513871.1:c.1928_1930del	XP_011512173.1:p.Glu643del
XM_011513872.1:c.2075_2077del	XP_011512174.1:p.Glu692del
XM_011513873.1:c.2075_2077del	XP_011512175.1:p.Glu692del
XM_011513872.3:c.2075_2077del	XP_011512174.1:p.Glu692del
XM_017008482.1:c.1928_1930del	XP_016863971.1:p.Glu643del
XR_001741296.1:n.2275_2277del
NM_001378615.1:c.2075_2077del MANE Select	NP_001365544.1:p.Glu692del
NM_001378617.1:c.1928_1930del	NP_001365546.1:p.Glu643del