Canonical Allele Identifier: CA2573137613

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1453471
• ClinVar RCV Id: RCV002037916

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15560607_15560608delinsTT , CM000666.2:g.15560607_15560608delinsTT	GRCh38
NC_000004.11:g.15562230_15562231delinsTT , CM000666.1:g.15562230_15562231delinsTT	GRCh37
NC_000004.10:g.15171328_15171329delinsTT	NCBI36
NG_013035.1:g.95742_95743delinsTT , LRG_697:g.95742_95743delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2999_3000delinsTT	ENSP00000374303.8:p.Glu1000Val
ENST00000424120.6:c.2999_3000delinsTT MANE Select	ENSP00000403465.1:p.Glu1000Val
ENST00000503292.6:c.2999_3000delinsTT	ENSP00000421809.1:p.Glu1000Val
ENST00000506643.5:c.2852_2853delinsTT	ENSP00000422931.2:p.Glu951Val
ENST00000634028.2:c.2852_2853delinsTT	ENSP00000488669.2:p.Glu951Val
ENST00000650860.2:c.2852_2853delinsTT	ENSP00000498775.1:p.Glu951Val
ENST00000674945.1:c.2852_2853delinsTT	ENSP00000502333.1:p.Glu951Val
ENST00000675619.1:n.1078_1079delinsTT
ENST00000675768.1:n.219_220delinsTT
ENST00000676337.1:c.2852_2853delinsTT	ENSP00000501728.1:p.Glu951Val
ENST00000680586.1:n.926_927delinsTT
ENST00000389652.9:c.2461_2462delinsTT
ENST00000424120.5:c.2999_3000delinsTT	ENSP00000403465.1:p.Glu1000Val
ENST00000503292.5:c.2999_3000delinsTT	ENSP00000421809.1:p.Glu1000Val
ENST00000506643.4:c.1327_1328delinsTT
ENST00000634028.1:c.2982_2983delinsTT	ENSP00000488669.1:n.2982_2983delinsTT
NM_001080522.2:c.2999_3000delinsTT , LRG_697t1:c.2999_3000delinsTT	NP_001073991.2:p.Glu1000Val
XM_005248177.1:c.2999_3000delinsTT	XP_005248234.1:p.Glu1000Val
XM_011513869.1:c.2999_3000delinsTT	XP_011512171.1:p.Glu1000Val
XM_011513870.1:c.2999_3000delinsTT	XP_011512172.1:p.Glu1000Val
XM_011513871.1:c.2852_2853delinsTT	XP_011512173.1:p.Glu951Val
XM_011513872.1:c.2999_3000delinsTT	XP_011512174.1:p.Glu1000Val
XM_011513873.1:c.2999_3000delinsTT	XP_011512175.1:p.Glu1000Val
XM_011513872.3:c.2999_3000delinsTT	XP_011512174.1:p.Glu1000Val
XM_017008482.1:c.2852_2853delinsTT	XP_016863971.1:p.Glu951Val
XR_001741296.1:n.3199_3200delinsTT
NM_001378615.1:c.2999_3000delinsTT MANE Select	NP_001365544.1:p.Glu1000Val
NM_001378617.1:c.2852_2853delinsTT	NP_001365546.1:p.Glu951Val