Canonical Allele Identifier: CA210269
Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 217602
dbSNP Id: rs370880399
gnomAD v2: 4-15565018-C-T
gnomAD v3: 4-15563395-C-T
gnomAD v4: 4-15563395-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15563395C>T , CM000666.2:g.15563395C>T GRCh38
NC_000004.11:g.15565018C>T , CM000666.1:g.15565018C>T GRCh37
NC_000004.10:g.15174116C>T NCBI36
NG_013035.1:g.98530C>T , LRG_697:g.98530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3070C>T ENSP00000374303.8:p.Arg1024Ter
ENST00000424120.6:c.3055C>T MANE Select ENSP00000403465.1:p.Arg1019Ter
ENST00000503292.6:c.3055C>T ENSP00000421809.1:p.Arg1019Ter
ENST00000506643.5:c.2908C>T ENSP00000422931.2:p.Arg970Ter
ENST00000634028.2:c.2908C>T ENSP00000488669.2:p.Arg970Ter
ENST00000650860.2:c.*61C>T ENSP00000498775.1:n.*61C>T
ENST00000674945.1:c.2908C>T ENSP00000502333.1:p.Arg970Ter
ENST00000675619.1:n.3866C>T
ENST00000675768.1:n.275C>T
ENST00000676337.1:c.*61C>T ENSP00000501728.1:n.*61C>T
ENST00000680586.1:n.3714C>T
ENST00000389652.9:c.2532C>T
ENST00000424120.5:c.3055C>T ENSP00000403465.1:p.Arg1019Ter
ENST00000503292.5:c.3055C>T ENSP00000421809.1:p.Arg1019Ter
ENST00000506643.4:c.1383C>T
ENST00000634028.1:c.3038C>T ENSP00000488669.1:n.3038C>T
NM_001080522.2:c.3055C>T , LRG_697t1:c.3055C>T NP_001073991.2:p.Arg1019Ter
XM_005248177.1:c.3055C>T XP_005248234.1:p.Arg1019Ter
XM_011513869.1:c.3055C>T XP_011512171.1:p.Arg1019Ter
XM_011513870.1:c.3055C>T XP_011512172.1:p.Arg1019Ter
XM_011513871.1:c.2908C>T XP_011512173.1:p.Arg970Ter
XM_011513872.1:c.*41C>T XP_011512174.1:n.*41C>T
XM_011513872.3:c.*41C>T XP_011512174.1:n.*41C>T
XM_017008482.1:c.2908C>T XP_016863971.1:p.Arg970Ter
XR_001741296.1:n.3300C>T
NM_001378615.1:c.3055C>T MANE Select NP_001365544.1:p.Arg1019Ter
NM_001378617.1:c.2908C>T NP_001365546.1:p.Arg970Ter