Canonical Allele Identifier: CA2670077166
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15570325-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15570325T>C , CM000666.2:g.15570325T>C GRCh38
NC_000004.11:g.15571948T>C , CM000666.1:g.15571948T>C GRCh37
NC_000004.10:g.15181046T>C NCBI36
NG_013035.1:g.105460T>C , LRG_697:g.105460T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3511-73T>C ENSP00000374303.8:n.3511-73T>C
ENST00000424120.6:c.3496-73T>C MANE Select ENSP00000403465.1:n.3496-73T>C
ENST00000503292.6:c.3496-73T>C ENSP00000421809.1:n.3496-73T>C
ENST00000506643.5:c.3349-73T>C ENSP00000422931.2:n.3349-73T>C
ENST00000634028.2:c.3349-73T>C ENSP00000488669.2:n.3349-73T>C
ENST00000650860.2:c.*502-73T>C ENSP00000498775.1:n.*502-73T>C
ENST00000674945.1:c.3349-73T>C ENSP00000502333.1:n.3349-73T>C
ENST00000675619.1:n.4307-73T>C
ENST00000675768.1:n.716-73T>C
ENST00000676337.1:c.*502-73T>C ENSP00000501728.1:n.*502-73T>C
ENST00000680586.1:n.4155-73T>C
ENST00000389652.9:c.2973-73T>C
ENST00000424120.5:c.3496-73T>C ENSP00000403465.1:n.3496-73T>C
ENST00000503292.5:c.3496-73T>C ENSP00000421809.1:n.3496-73T>C
ENST00000506643.4:c.1824-73T>C
ENST00000634028.1:c.3479-73T>C ENSP00000488669.1:n.3479-73T>C
NM_001080522.2:c.3496-73T>C , LRG_697t1:c.3496-73T>C NP_001073991.2:n.3496-73T>C
XM_005248177.1:c.3496-73T>C XP_005248234.1:n.3496-73T>C
XM_011513869.1:c.3496-73T>C XP_011512171.1:n.3496-73T>C
XM_011513870.1:c.3496-73T>C XP_011512172.1:n.3496-73T>C
XM_011513871.1:c.3349-73T>C XP_011512173.1:n.3349-73T>C
XM_017008482.1:c.3349-73T>C XP_016863971.1:n.3349-73T>C
XR_001741296.1:n.3741-73T>C
NM_001378615.1:c.3496-73T>C MANE Select NP_001365544.1:n.3496-73T>C
NM_001378617.1:c.3349-73T>C NP_001365546.1:n.3349-73T>C