Canonical Allele Identifier: CA2670075741
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15559087-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15559087A>T , CM000666.2:g.15559087A>T GRCh38
NC_000004.11:g.15560710A>T , CM000666.1:g.15560710A>T GRCh37
NC_000004.10:g.15169808A>T NCBI36
NG_013035.1:g.94222A>T , LRG_697:g.94222A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389652.11:c.2830-78A>T ENSP00000374303.8:n.2830-78A>T
ENST00000424120.6:c.2830-78A>T MANE Select ENSP00000403465.1:n.2830-78A>T
ENST00000503292.6:c.2830-78A>T ENSP00000421809.1:n.2830-78A>T
ENST00000506643.5:c.2683-78A>T ENSP00000422931.2:n.2683-78A>T
ENST00000634028.2:c.2683-78A>T ENSP00000488669.2:n.2683-78A>T
ENST00000650860.2:c.2683-78A>T ENSP00000498775.1:n.2683-78A>T
ENST00000674945.1:c.2683-78A>T ENSP00000502333.1:n.2683-78A>T
ENST00000675619.1:n.909-78A>T
ENST00000675768.1:n.50-78A>T
ENST00000676337.1:c.2683-78A>T ENSP00000501728.1:n.2683-78A>T
ENST00000680586.1:n.757-78A>T
ENST00000389652.9:c.2292-78A>T
ENST00000424120.5:c.2830-78A>T ENSP00000403465.1:n.2830-78A>T
ENST00000503292.5:c.2830-78A>T ENSP00000421809.1:n.2830-78A>T
ENST00000506643.4:c.1158-78A>T
ENST00000634028.1:c.2813-78A>T ENSP00000488669.1:n.2813-78A>T
NM_001080522.2:c.2830-78A>T , LRG_697t1:c.2830-78A>T NP_001073991.2:n.2830-78A>T
XM_005248177.1:c.2830-78A>T XP_005248234.1:n.2830-78A>T
XM_011513869.1:c.2830-78A>T XP_011512171.1:n.2830-78A>T
XM_011513870.1:c.2830-78A>T XP_011512172.1:n.2830-78A>T
XM_011513871.1:c.2683-78A>T XP_011512173.1:n.2683-78A>T
XM_011513872.1:c.2830-78A>T XP_011512174.1:n.2830-78A>T
XM_011513873.1:c.2830-78A>T XP_011512175.1:n.2830-78A>T
XM_011513872.3:c.2830-78A>T XP_011512174.1:n.2830-78A>T
XM_017008482.1:c.2683-78A>T XP_016863971.1:n.2683-78A>T
XR_001741296.1:n.3030-78A>T
NM_001378615.1:c.2830-78A>T MANE Select NP_001365544.1:n.2830-78A>T
NM_001378617.1:c.2683-78A>T NP_001365546.1:n.2683-78A>T