Canonical Allele Identifier: CA438391037

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1223540044
• gnomAD v3: 4-15596114-T-G
• gnomAD v4: 4-15596114-T-G
• MyVariant Identifiers: chr4:g.15597737T>G (hg19) ; chr4:g.15596114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596114T>G , CM000666.2:g.15596114T>G	GRCh38
NC_000004.11:g.15597737T>G , CM000666.1:g.15597737T>G	GRCh37
NC_000004.10:g.15206835T>G	NCBI36
NG_013035.1:g.131249T>G , LRG_697:g.131249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4380T>G	ENSP00000374303.8:p.Ser1460=
ENST00000424120.6:c.4344T>G MANE Select	ENSP00000403465.1:p.Ser1448=
ENST00000503292.6:c.4344T>G	ENSP00000421809.1:p.Ser1448=
ENST00000506643.5:c.4197T>G	ENSP00000422931.2:p.Ser1399=
ENST00000513035.2:n.243T>G
ENST00000514039.6:c.544-1293T>G	ENSP00000488534.2:n.544-1293T>G
ENST00000634028.2:c.4168-30T>G	ENSP00000488669.2:n.4168-30T>G
ENST00000650860.2:c.*1841T>G	ENSP00000498775.1:n.*1841T>G
ENST00000674945.1:c.4020T>G	ENSP00000502333.1:p.Ser1340=
ENST00000680586.1:n.5003T>G
ENST00000389652.9:c.3842T>G
ENST00000424120.5:c.4344T>G	ENSP00000403465.1:p.Ser1448=
ENST00000503292.5:c.4344T>G	ENSP00000421809.1:p.Ser1448=
ENST00000506643.4:c.2643-30T>G
ENST00000513035.1:n.243T>G
ENST00000514039.5:c.54-1293T>G
ENST00000634028.1:c.4150T>G	ENSP00000488669.1:n.4150T>G
NM_001080522.2:c.4344T>G , LRG_697t1:c.4344T>G	NP_001073991.2:p.Ser1448=
XM_005248177.1:c.4344T>G	XP_005248234.1:p.Ser1448=
XM_011513869.1:c.4362T>G	XP_011512171.1:p.Ser1454=
XM_011513870.1:c.4362T>G	XP_011512172.1:p.Ser1454=
XM_011513871.1:c.4215T>G	XP_011512173.1:p.Ser1405=
XM_017008482.1:c.4197T>G	XP_016863971.1:p.Ser1399=
NM_001378615.1:c.4344T>G MANE Select	NP_001365544.1:p.Ser1448=
NM_001378617.1:c.4197T>G	NP_001365546.1:p.Ser1399=