Canonical Allele Identifier: CA2863861
Community Standard Title: NM_001378615.1(CC2D2A):c.2182-9G>A
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15550815G>A , CM000666.2:g.15550815G>A GRCh38
NC_000004.11:g.15552438G>A , CM000666.1:g.15552438G>A GRCh37
NC_000004.10:g.15161536G>A NCBI36
NG_013035.1:g.85950G>A , LRG_697:g.85950G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.2182-9G>A MANE Select NP_001365544.1:n.2182-9G>A
ENST00000424120.6:c.2182-9G>A MANE Select ENSP00000403465.1:n.2182-9G>A
NM_001080522.2:c.2182-9G>A , LRG_697t1:c.2182-9G>A NP_001073991.2:n.2182-9G>A
NM_001378617.1:c.2035-9G>A NP_001365546.1:n.2035-9G>A
ENST00000389652.11:c.2182-9G>A ENSP00000374303.8:n.2182-9G>A
ENST00000389652.9:c.1644-9G>A
ENST00000424120.5:c.2182-9G>A ENSP00000403465.1:n.2182-9G>A
ENST00000503292.5:c.2182-9G>A ENSP00000421809.1:n.2182-9G>A
ENST00000503292.6:c.2182-9G>A ENSP00000421809.1:n.2182-9G>A
ENST00000506643.4:c.510-9G>A
ENST00000506643.5:c.2035-9G>A ENSP00000422931.2:n.2035-9G>A
ENST00000512202.1:n.78G>A
ENST00000634028.1:c.2165-9G>A ENSP00000488669.1:n.2165-9G>A
ENST00000634028.2:c.2035-9G>A ENSP00000488669.2:n.2035-9G>A
ENST00000650860.2:c.2035-9G>A ENSP00000498775.1:n.2035-9G>A
ENST00000674945.1:c.2035-9G>A ENSP00000502333.1:n.2035-9G>A
ENST00000675619.1:n.261-9G>A
ENST00000676337.1:c.2035-9G>A ENSP00000501728.1:n.2035-9G>A
ENST00000680586.1:n.109-9G>A
XM_005248177.1:c.2182-9G>A XP_005248234.1:n.2182-9G>A
XM_011513869.1:c.2182-9G>A XP_011512171.1:n.2182-9G>A
XM_011513870.1:c.2182-9G>A XP_011512172.1:n.2182-9G>A
XM_011513871.1:c.2035-9G>A XP_011512173.1:n.2035-9G>A
XM_011513872.1:c.2182-9G>A XP_011512174.1:n.2182-9G>A
XM_011513872.3:c.2182-9G>A XP_011512174.1:n.2182-9G>A
XM_011513873.1:c.2182-9G>A XP_011512175.1:n.2182-9G>A
XM_017008482.1:c.2035-9G>A XP_016863971.1:n.2035-9G>A
XR_001741296.1:n.2382-9G>A