Canonical Allele Identifier: CA2670077171
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15570335-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15570335C>G , CM000666.2:g.15570335C>G GRCh38
NC_000004.11:g.15571958C>G , CM000666.1:g.15571958C>G GRCh37
NC_000004.10:g.15181056C>G NCBI36
NG_013035.1:g.105470C>G , LRG_697:g.105470C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3511-63C>G ENSP00000374303.8:n.3511-63C>G
ENST00000424120.6:c.3496-63C>G MANE Select ENSP00000403465.1:n.3496-63C>G
ENST00000503292.6:c.3496-63C>G ENSP00000421809.1:n.3496-63C>G
ENST00000506643.5:c.3349-63C>G ENSP00000422931.2:n.3349-63C>G
ENST00000634028.2:c.3349-63C>G ENSP00000488669.2:n.3349-63C>G
ENST00000650860.2:c.*502-63C>G ENSP00000498775.1:n.*502-63C>G
ENST00000674945.1:c.3349-63C>G ENSP00000502333.1:n.3349-63C>G
ENST00000675619.1:n.4307-63C>G
ENST00000675768.1:n.716-63C>G
ENST00000676337.1:c.*502-63C>G ENSP00000501728.1:n.*502-63C>G
ENST00000680586.1:n.4155-63C>G
ENST00000389652.9:c.2973-63C>G
ENST00000424120.5:c.3496-63C>G ENSP00000403465.1:n.3496-63C>G
ENST00000503292.5:c.3496-63C>G ENSP00000421809.1:n.3496-63C>G
ENST00000506643.4:c.1824-63C>G
ENST00000634028.1:c.3479-63C>G ENSP00000488669.1:n.3479-63C>G
NM_001080522.2:c.3496-63C>G , LRG_697t1:c.3496-63C>G NP_001073991.2:n.3496-63C>G
XM_005248177.1:c.3496-63C>G XP_005248234.1:n.3496-63C>G
XM_011513869.1:c.3496-63C>G XP_011512171.1:n.3496-63C>G
XM_011513870.1:c.3496-63C>G XP_011512172.1:n.3496-63C>G
XM_011513871.1:c.3349-63C>G XP_011512173.1:n.3349-63C>G
XM_017008482.1:c.3349-63C>G XP_016863971.1:n.3349-63C>G
XR_001741296.1:n.3741-63C>G
NM_001378615.1:c.3496-63C>G MANE Select NP_001365544.1:n.3496-63C>G
NM_001378617.1:c.3349-63C>G NP_001365546.1:n.3349-63C>G