Canonical Allele Identifier: CA2670076824
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15567673-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567673T>G , CM000666.2:g.15567673T>G GRCh38
NC_000004.11:g.15569296T>G , CM000666.1:g.15569296T>G GRCh37
NC_000004.10:g.15178394T>G NCBI36
NG_013035.1:g.102808T>G , LRG_697:g.102808T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389652.11:c.3304-4T>G ENSP00000374303.8:n.3304-4T>G
ENST00000424120.6:c.3289-4T>G MANE Select ENSP00000403465.1:n.3289-4T>G
ENST00000503292.6:c.3289-4T>G ENSP00000421809.1:n.3289-4T>G
ENST00000506643.5:c.3142-4T>G ENSP00000422931.2:n.3142-4T>G
ENST00000634028.2:c.3142-4T>G ENSP00000488669.2:n.3142-4T>G
ENST00000650860.2:c.*295-4T>G ENSP00000498775.1:n.*295-4T>G
ENST00000674945.1:c.3142-4T>G ENSP00000502333.1:n.3142-4T>G
ENST00000675619.1:n.4100-4T>G
ENST00000675768.1:n.509-4T>G
ENST00000676337.1:c.*295-4T>G ENSP00000501728.1:n.*295-4T>G
ENST00000680586.1:n.3948-4T>G
ENST00000389652.9:c.2766-4T>G
ENST00000424120.5:c.3289-4T>G ENSP00000403465.1:n.3289-4T>G
ENST00000503292.5:c.3289-4T>G ENSP00000421809.1:n.3289-4T>G
ENST00000506643.4:c.1617-4T>G
ENST00000634028.1:c.3272-4T>G ENSP00000488669.1:n.3272-4T>G
NM_001080522.2:c.3289-4T>G , LRG_697t1:c.3289-4T>G NP_001073991.2:n.3289-4T>G
XM_005248177.1:c.3289-4T>G XP_005248234.1:n.3289-4T>G
XM_011513869.1:c.3289-4T>G XP_011512171.1:n.3289-4T>G
XM_011513870.1:c.3289-4T>G XP_011512172.1:n.3289-4T>G
XM_011513871.1:c.3142-4T>G XP_011512173.1:n.3142-4T>G
XM_017008482.1:c.3142-4T>G XP_016863971.1:n.3142-4T>G
XR_001741296.1:n.3534-4T>G
NM_001378615.1:c.3289-4T>G MANE Select NP_001365544.1:n.3289-4T>G
NM_001378617.1:c.3142-4T>G NP_001365546.1:n.3142-4T>G