Canonical Allele Identifier: CA2499217140

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1073574
• ClinVar RCV Id: RCV001386608
• dbSNP Id: rs2109060214

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559233_15559234dup , CM000666.2:g.15559233_15559234dup	GRCh38
NC_000004.11:g.15560856_15560857dup , CM000666.1:g.15560856_15560857dup	GRCh37
NC_000004.10:g.15169954_15169955dup	NCBI36
NG_013035.1:g.94368_94369dup , LRG_697:g.94368_94369dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2898_2899dup	ENSP00000374303.8:p.Ile967ThrfsTer2
ENST00000424120.6:c.2898_2899dup MANE Select	ENSP00000403465.1:p.Ile967ThrfsTer2
ENST00000503292.6:c.2898_2899dup	ENSP00000421809.1:p.Ile967ThrfsTer2
ENST00000506643.5:c.2751_2752dup	ENSP00000422931.2:p.Ile918ThrfsTer2
ENST00000634028.2:c.2751_2752dup	ENSP00000488669.2:p.Ile918ThrfsTer2
ENST00000650860.2:c.2751_2752dup	ENSP00000498775.1:p.Ile918ThrfsTer2
ENST00000674945.1:c.2751_2752dup	ENSP00000502333.1:p.Ile918ThrfsTer2
ENST00000675619.1:n.977_978dup
ENST00000675768.1:n.118_119dup
ENST00000676337.1:c.2751_2752dup	ENSP00000501728.1:p.Ile918ThrfsTer2
ENST00000680586.1:n.825_826dup
ENST00000389652.9:c.2360_2361dup
ENST00000424120.5:c.2898_2899dup	ENSP00000403465.1:p.Ile967ThrfsTer2
ENST00000503292.5:c.2898_2899dup	ENSP00000421809.1:p.Ile967ThrfsTer2
ENST00000506643.4:c.1226_1227dup
ENST00000634028.1:c.2881_2882dup	ENSP00000488669.1:n.2881_2882dup
NM_001080522.2:c.2898_2899dup , LRG_697t1:c.2898_2899dup	NP_001073991.2:p.Ile967ThrfsTer2
XM_005248177.1:c.2898_2899dup	XP_005248234.1:p.Ile967ThrfsTer2
XM_011513869.1:c.2898_2899dup	XP_011512171.1:p.Ile967ThrfsTer2
XM_011513870.1:c.2898_2899dup	XP_011512172.1:p.Ile967ThrfsTer2
XM_011513871.1:c.2751_2752dup	XP_011512173.1:p.Ile918ThrfsTer2
XM_011513872.1:c.2898_2899dup	XP_011512174.1:p.Ile967ThrfsTer2
XM_011513873.1:c.2898_2899dup	XP_011512175.1:p.Ile967ThrfsTer2
XM_011513872.3:c.2898_2899dup	XP_011512174.1:p.Ile967ThrfsTer2
XM_017008482.1:c.2751_2752dup	XP_016863971.1:p.Ile918ThrfsTer2
XR_001741296.1:n.3098_3099dup
NM_001378615.1:c.2898_2899dup MANE Select	NP_001365544.1:p.Ile967ThrfsTer2
NM_001378617.1:c.2751_2752dup	NP_001365546.1:p.Ile918ThrfsTer2