Canonical Allele Identifier: CA2863908
Community Standard Title: NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15553206T>G , CM000666.2:g.15553206T>G GRCh38
NC_000004.11:g.15554829T>G , CM000666.1:g.15554829T>G GRCh37
NC_000004.10:g.15163927T>G NCBI36
NG_013035.1:g.88341T>G , LRG_697:g.88341T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.2387T>G MANE Select NP_001365544.1:p.Met796Arg
ENST00000424120.6:c.2387T>G MANE Select ENSP00000403465.1:p.Met796Arg
NM_001080522.2:c.2387T>G , LRG_697t1:c.2387T>G NP_001073991.2:p.Met796Arg
NM_001378617.1:c.2240T>G NP_001365546.1:p.Met747Arg
ENST00000389652.11:c.2387T>G ENSP00000374303.8:p.Met796Arg
ENST00000389652.9:c.1849T>G
ENST00000424120.5:c.2387T>G ENSP00000403465.1:p.Met796Arg
ENST00000503292.5:c.2387T>G ENSP00000421809.1:p.Met796Arg
ENST00000503292.6:c.2387T>G ENSP00000421809.1:p.Met796Arg
ENST00000506643.4:c.715T>G
ENST00000506643.5:c.2240T>G ENSP00000422931.2:p.Met747Arg
ENST00000512202.1:n.292T>G
ENST00000634028.1:c.2370T>G ENSP00000488669.1:n.2370T>G
ENST00000634028.2:c.2240T>G ENSP00000488669.2:p.Met747Arg
ENST00000650860.2:c.2240T>G ENSP00000498775.1:p.Met747Arg
ENST00000674945.1:c.2240T>G ENSP00000502333.1:p.Met747Arg
ENST00000675619.1:n.466T>G
ENST00000676337.1:c.2240T>G ENSP00000501728.1:p.Met747Arg
ENST00000680586.1:n.314T>G
XM_005248177.1:c.2387T>G XP_005248234.1:p.Met796Arg
XM_011513869.1:c.2387T>G XP_011512171.1:p.Met796Arg
XM_011513870.1:c.2387T>G XP_011512172.1:p.Met796Arg
XM_011513871.1:c.2240T>G XP_011512173.1:p.Met747Arg
XM_011513872.1:c.2387T>G XP_011512174.1:p.Met796Arg
XM_011513872.3:c.2387T>G XP_011512174.1:p.Met796Arg
XM_011513873.1:c.2387T>G XP_011512175.1:p.Met796Arg
XM_017008482.1:c.2240T>G XP_016863971.1:p.Met747Arg
XR_001741296.1:n.2587T>G