Canonical Allele Identifier: CA356418620
Gene: CC2D2A HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567689C>A , CM000666.2:g.15567689C>A GRCh38
NC_000004.11:g.15569312C>A , CM000666.1:g.15569312C>A GRCh37
NC_000004.10:g.15178410C>A NCBI36
NG_013035.1:g.102824C>A , LRG_697:g.102824C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3316C>A ENSP00000374303.8:p.Pro1106Thr
ENST00000424120.6:c.3301C>A MANE Select ENSP00000403465.1:p.Pro1101Thr
ENST00000503292.6:c.3301C>A ENSP00000421809.1:p.Pro1101Thr
ENST00000506643.5:c.3154C>A ENSP00000422931.2:p.Pro1052Thr
ENST00000634028.2:c.3154C>A ENSP00000488669.2:p.Pro1052Thr
ENST00000650860.2:c.*307C>A ENSP00000498775.1:n.*307C>A
ENST00000674945.1:c.3154C>A ENSP00000502333.1:p.Pro1052Thr
ENST00000675619.1:n.4112C>A
ENST00000675768.1:n.521C>A
ENST00000676337.1:c.*307C>A ENSP00000501728.1:n.*307C>A
ENST00000680586.1:n.3960C>A
ENST00000389652.9:c.2778C>A
ENST00000424120.5:c.3301C>A ENSP00000403465.1:p.Pro1101Thr
ENST00000503292.5:c.3301C>A ENSP00000421809.1:p.Pro1101Thr
ENST00000506643.4:c.1629C>A
ENST00000634028.1:c.3284C>A ENSP00000488669.1:n.3284C>A
NM_001080522.2:c.3301C>A , LRG_697t1:c.3301C>A NP_001073991.2:p.Pro1101Thr
XM_005248177.1:c.3301C>A XP_005248234.1:p.Pro1101Thr
XM_011513869.1:c.3301C>A XP_011512171.1:p.Pro1101Thr
XM_011513870.1:c.3301C>A XP_011512172.1:p.Pro1101Thr
XM_011513871.1:c.3154C>A XP_011512173.1:p.Pro1052Thr
XM_017008482.1:c.3154C>A XP_016863971.1:p.Pro1052Thr
XR_001741296.1:n.3546C>A
NM_001378615.1:c.3301C>A MANE Select NP_001365544.1:p.Pro1101Thr
NM_001378617.1:c.3154C>A NP_001365546.1:p.Pro1052Thr