Canonical Allele Identifier: CA356431500

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15596118-C-G
• MyVariant Identifiers: chr4:g.15597741C>G (hg19) ; chr4:g.15596118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596118C>G , CM000666.2:g.15596118C>G	GRCh38
NC_000004.11:g.15597741C>G , CM000666.1:g.15597741C>G	GRCh37
NC_000004.10:g.15206839C>G	NCBI36
NG_013035.1:g.131253C>G , LRG_697:g.131253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4384C>G	ENSP00000374303.8:p.Leu1462Val
ENST00000424120.6:c.4348C>G MANE Select	ENSP00000403465.1:p.Leu1450Val
ENST00000503292.6:c.4348C>G	ENSP00000421809.1:p.Leu1450Val
ENST00000506643.5:c.4201C>G	ENSP00000422931.2:p.Leu1401Val
ENST00000513035.2:n.247C>G
ENST00000514039.6:c.544-1289C>G	ENSP00000488534.2:n.544-1289C>G
ENST00000634028.2:c.4168-26C>G	ENSP00000488669.2:n.4168-26C>G
ENST00000650860.2:c.*1845C>G	ENSP00000498775.1:n.*1845C>G
ENST00000674945.1:c.4024C>G	ENSP00000502333.1:p.Leu1342Val
ENST00000680586.1:n.5007C>G
ENST00000389652.9:c.3846C>G
ENST00000424120.5:c.4348C>G	ENSP00000403465.1:p.Leu1450Val
ENST00000503292.5:c.4348C>G	ENSP00000421809.1:p.Leu1450Val
ENST00000506643.4:c.2643-26C>G
ENST00000513035.1:n.247C>G
ENST00000514039.5:c.54-1289C>G
ENST00000634028.1:c.4154C>G	ENSP00000488669.1:n.4154C>G
NM_001080522.2:c.4348C>G , LRG_697t1:c.4348C>G	NP_001073991.2:p.Leu1450Val
XM_005248177.1:c.4348C>G	XP_005248234.1:p.Leu1450Val
XM_011513869.1:c.4366C>G	XP_011512171.1:p.Leu1456Val
XM_011513870.1:c.4366C>G	XP_011512172.1:p.Leu1456Val
XM_011513871.1:c.4219C>G	XP_011512173.1:p.Leu1407Val
XM_017008482.1:c.4201C>G	XP_016863971.1:p.Leu1401Val
NM_001378615.1:c.4348C>G MANE Select	NP_001365544.1:p.Leu1450Val
NM_001378617.1:c.4201C>G	NP_001365546.1:p.Leu1401Val