Canonical Allele Identifier: CA10607039
Community Standard Title: NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15563412G>A , CM000666.2:g.15563412G>A GRCh38
NC_000004.11:g.15565035G>A , CM000666.1:g.15565035G>A GRCh37
NC_000004.10:g.15174133G>A NCBI36
NG_013035.1:g.98547G>A , LRG_697:g.98547G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.3072G>A MANE Select NP_001365544.1:p.Arg1024=
ENST00000424120.6:c.3072G>A MANE Select ENSP00000403465.1:p.Arg1024=
NM_001080522.2:c.3072G>A , LRG_697t1:c.3072G>A NP_001073991.2:p.Arg1024=
NM_001378617.1:c.2925G>A NP_001365546.1:p.Arg975=
ENST00000389652.11:c.3087G>A ENSP00000374303.8:p.Arg1029=
ENST00000389652.9:c.2549G>A
ENST00000424120.5:c.3072G>A ENSP00000403465.1:p.Arg1024=
ENST00000503292.5:c.3072G>A ENSP00000421809.1:p.Arg1024=
ENST00000503292.6:c.3072G>A ENSP00000421809.1:p.Arg1024=
ENST00000506643.4:c.1400G>A
ENST00000506643.5:c.2925G>A ENSP00000422931.2:p.Arg975=
ENST00000634028.1:c.3055G>A ENSP00000488669.1:n.3055G>A
ENST00000634028.2:c.2925G>A ENSP00000488669.2:p.Arg975=
ENST00000650860.2:c.*78G>A ENSP00000498775.1:n.*78G>A
ENST00000674945.1:c.2925G>A ENSP00000502333.1:p.Arg975=
ENST00000675619.1:n.3883G>A
ENST00000675768.1:n.292G>A
ENST00000676337.1:c.*78G>A ENSP00000501728.1:n.*78G>A
ENST00000680586.1:n.3731G>A
XM_005248177.1:c.3072G>A XP_005248234.1:p.Arg1024=
XM_011513869.1:c.3072G>A XP_011512171.1:p.Arg1024=
XM_011513870.1:c.3072G>A XP_011512172.1:p.Arg1024=
XM_011513871.1:c.2925G>A XP_011512173.1:p.Arg975=
XM_011513872.1:c.*58G>A XP_011512174.1:n.*58G>A
XM_011513872.3:c.*58G>A XP_011512174.1:n.*58G>A
XM_017008482.1:c.2925G>A XP_016863971.1:p.Arg975=
XR_001741296.1:n.3317G>A