Canonical Allele Identifier: CA549889139

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 2950561
• ClinVar RCV Id: RCV003809871
• dbSNP Id: rs1338343514
• gnomAD v2: 4-15511841-GA-G
• gnomAD v3: 4-15510218-GA-G
• gnomAD v4: 4-15510218-GA-G
• MyVariant Identifiers: chr4:g.15511842del (hg19) ; chr4:g.15510219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15510223del , CM000666.2:g.15510223del	GRCh38
NC_000004.11:g.15511846del , CM000666.1:g.15511846del	GRCh37
NC_000004.10:g.15120944del	NCBI36
NG_013035.1:g.45358del , LRG_697:g.45358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.523del	ENSP00000374303.8:p.Ile175SerfsTer?
ENST00000424120.6:c.523del MANE Select	ENSP00000403465.1:p.Ile175SerfsTer?
ENST00000503292.6:c.523del	ENSP00000421809.1:p.Ile175SerfsTer?
ENST00000506643.5:c.376del	ENSP00000422931.2:p.Ile126SerfsTer?
ENST00000512702.6:c.523del	ENSP00000422875.2:p.Ile175SerfsTer?
ENST00000514450.3:c.523del	ENSP00000502062.1:p.Ile175SerfsTer?
ENST00000634028.2:c.376del	ENSP00000488669.2:p.Ile126SerfsTer?
ENST00000650860.2:c.376del	ENSP00000498775.1:p.Ile126SerfsTer?
ENST00000651385.1:c.376del	ENSP00000499005.1:p.Ile126SerfsTer?
ENST00000674945.1:c.376del	ENSP00000502333.1:p.Ile126SerfsTer?
ENST00000676337.1:c.376del	ENSP00000501728.1:p.Ile126SerfsTer?
ENST00000424120.5:c.523del	ENSP00000403465.1:p.Ile175SerfsTer?
ENST00000503292.5:c.523del	ENSP00000421809.1:p.Ile175SerfsTer?
ENST00000512702.5:c.523del	ENSP00000422875.1:p.Ile175SerfsTer?
ENST00000513811.5:n.703del
ENST00000514450.2:n.678del
ENST00000634028.1:c.506del	ENSP00000488669.1:n.506del
NM_001080522.2:c.523del , LRG_697t1:c.523del	NP_001073991.2:p.Ile175SerfsTer?
XM_005248177.1:c.523del	XP_005248234.1:p.Ile175SerfsTer?
XM_011513869.1:c.523del	XP_011512171.1:p.Ile175SerfsTer?
XM_011513870.1:c.523del	XP_011512172.1:p.Ile175SerfsTer?
XM_011513871.1:c.376del	XP_011512173.1:p.Ile126SerfsTer?
XM_011513872.1:c.523del	XP_011512174.1:p.Ile175SerfsTer?
XM_011513873.1:c.523del	XP_011512175.1:p.Ile175SerfsTer?
XM_011513872.3:c.523del	XP_011512174.1:p.Ile175SerfsTer?
XM_017008482.1:c.376del	XP_016863971.1:p.Ile126SerfsTer?
XR_001741296.1:n.723del
NM_001378615.1:c.523del MANE Select	NP_001365544.1:p.Ile175SerfsTer?
NM_001378617.1:c.376del	NP_001365546.1:p.Ile126SerfsTer?