Canonical Allele Identifier: CA2670078503
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15589540-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15589540T>G , CM000666.2:g.15589540T>G GRCh38
NC_000004.11:g.15591163T>G , CM000666.1:g.15591163T>G GRCh37
NC_000004.10:g.15200261T>G NCBI36
NG_013035.1:g.124675T>G , LRG_697:g.124675T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.4216-5T>G ENSP00000374303.8:n.4216-5T>G
ENST00000424120.6:c.4180-5T>G MANE Select ENSP00000403465.1:n.4180-5T>G
ENST00000503292.6:c.4180-5T>G ENSP00000421809.1:n.4180-5T>G
ENST00000506643.5:c.4033-5T>G ENSP00000422931.2:n.4033-5T>G
ENST00000514039.6:c.409-5T>G ENSP00000488534.2:n.409-5T>G
ENST00000634028.2:c.4033-5T>G ENSP00000488669.2:n.4033-5T>G
ENST00000650860.2:c.*1677-5T>G ENSP00000498775.1:n.*1677-5T>G
ENST00000674945.1:c.3856-5T>G ENSP00000502333.1:n.3856-5T>G
ENST00000675768.1:n.1400-5T>G
ENST00000680586.1:n.4839-5T>G
ENST00000389652.9:c.3678-5T>G
ENST00000424120.5:c.4180-5T>G ENSP00000403465.1:n.4180-5T>G
ENST00000503292.5:c.4180-5T>G ENSP00000421809.1:n.4180-5T>G
ENST00000506643.4:c.2508-5T>G
ENST00000634028.1:c.3986-5T>G ENSP00000488669.1:n.3986-5T>G
NM_001080522.2:c.4180-5T>G , LRG_697t1:c.4180-5T>G NP_001073991.2:n.4180-5T>G
XM_005248177.1:c.4180-5T>G XP_005248234.1:n.4180-5T>G
XM_011513869.1:c.4198-5T>G XP_011512171.1:n.4198-5T>G
XM_011513870.1:c.4198-5T>G XP_011512172.1:n.4198-5T>G
XM_011513871.1:c.4051-5T>G XP_011512173.1:n.4051-5T>G
XM_017008482.1:c.4033-5T>G XP_016863971.1:n.4033-5T>G
NM_001378615.1:c.4180-5T>G MANE Select NP_001365544.1:n.4180-5T>G
NM_001378617.1:c.4033-5T>G NP_001365546.1:n.4033-5T>G