Canonical Allele Identifier: CA2863419
Gene: CC2D2A HGNC NCBI

Linked Data

dbSNP Id: rs757657054

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15510170_15510171insGTCCTTGACA , CM000666.2:g.15510170_15510171insGTCCTTGACA GRCh38
NC_000004.11:g.15511793_15511794insGTCCTTGACA , CM000666.1:g.15511793_15511794insGTCCTTGACA GRCh37
NC_000004.10:g.15120891_15120892insGTCCTTGACA NCBI36
NG_013035.1:g.45305_45306insGTCCTTGACA , LRG_697:g.45305_45306insGTCCTTGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.470_471insGTCCTTGACA ENSP00000374303.8:p.Val158SerfsTer5
ENST00000424120.6:c.470_471insGTCCTTGACA MANE Select ENSP00000403465.1:p.Val158SerfsTer5
ENST00000503292.6:c.470_471insGTCCTTGACA ENSP00000421809.1:p.Val158SerfsTer5
ENST00000506643.5:c.323_324insGTCCTTGACA ENSP00000422931.2:p.Val109SerfsTer5
ENST00000512702.6:c.470_471insGTCCTTGACA ENSP00000422875.2:p.Val158SerfsTer5
ENST00000514450.3:c.470_471insGTCCTTGACA ENSP00000502062.1:p.Val158SerfsTer5
ENST00000634028.2:c.323_324insGTCCTTGACA ENSP00000488669.2:p.Val109SerfsTer5
ENST00000650860.2:c.323_324insGTCCTTGACA ENSP00000498775.1:p.Val109SerfsTer5
ENST00000651385.1:c.323_324insGTCCTTGACA ENSP00000499005.1:p.Val109SerfsTer5
ENST00000674945.1:c.323_324insGTCCTTGACA ENSP00000502333.1:p.Val109SerfsTer5
ENST00000676337.1:c.323_324insGTCCTTGACA ENSP00000501728.1:p.Val109SerfsTer5
ENST00000424120.5:c.470_471insGTCCTTGACA ENSP00000403465.1:p.Val158SerfsTer5
ENST00000503292.5:c.470_471insGTCCTTGACA ENSP00000421809.1:p.Val158SerfsTer5
ENST00000512702.5:c.470_471insGTCCTTGACA ENSP00000422875.1:p.Val158SerfsTer5
ENST00000513811.5:n.650_651insGTCCTTGACA
ENST00000514450.2:n.625_626insGTCCTTGACA
ENST00000634028.1:c.453_454insGTCCTTGACA ENSP00000488669.1:n.453_454insGTCCTTGACA
NM_001080522.2:c.470_471insGTCCTTGACA , LRG_697t1:c.470_471insGTCCTTGACA NP_001073991.2:p.Val158SerfsTer5
XM_005248177.1:c.470_471insGTCCTTGACA XP_005248234.1:p.Val158SerfsTer5
XM_011513869.1:c.470_471insGTCCTTGACA XP_011512171.1:p.Val158SerfsTer5
XM_011513870.1:c.470_471insGTCCTTGACA XP_011512172.1:p.Val158SerfsTer5
XM_011513871.1:c.323_324insGTCCTTGACA XP_011512173.1:p.Val109SerfsTer5
XM_011513872.1:c.470_471insGTCCTTGACA XP_011512174.1:p.Val158SerfsTer5
XM_011513873.1:c.470_471insGTCCTTGACA XP_011512175.1:p.Val158SerfsTer5
XM_011513872.3:c.470_471insGTCCTTGACA XP_011512174.1:p.Val158SerfsTer5
XM_017008482.1:c.323_324insGTCCTTGACA XP_016863971.1:p.Val109SerfsTer5
XR_001741296.1:n.670_671insGTCCTTGACA
NM_001378615.1:c.470_471insGTCCTTGACA MANE Select NP_001365544.1:p.Val158SerfsTer5
NM_001378617.1:c.323_324insGTCCTTGACA NP_001365546.1:p.Val109SerfsTer5