Canonical Allele Identifier: CA789451814

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1371842040
• gnomAD v3: 4-15596115-C-CA
• gnomAD v4: 4-15596115-C-CA
• MyVariant Identifiers: chr4:g.15597738_15597739insA (hg19) ; chr4:g.15596115_15596116insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596115_15596116insA , CM000666.2:g.15596115_15596116insA	GRCh38
NC_000004.11:g.15597738_15597739insA , CM000666.1:g.15597738_15597739insA	GRCh37
NC_000004.10:g.15206836_15206837insA	NCBI36
NG_013035.1:g.131250_131251insA , LRG_697:g.131250_131251insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4381_4382insA	ENSP00000374303.8:p.Pro1461HisfsTer7
ENST00000424120.6:c.4345_4346insA MANE Select	ENSP00000403465.1:p.Pro1449HisfsTer7
ENST00000503292.6:c.4345_4346insA	ENSP00000421809.1:p.Pro1449HisfsTer7
ENST00000506643.5:c.4198_4199insA	ENSP00000422931.2:p.Pro1400HisfsTer7
ENST00000513035.2:n.244_245insA
ENST00000514039.6:c.544-1292_544-1291insA	ENSP00000488534.2:n.544-1292_544-1291insA
ENST00000634028.2:c.4168-29_4168-28insA	ENSP00000488669.2:n.4168-29_4168-28insA
ENST00000650860.2:c.*1842_*1843insA	ENSP00000498775.1:n.*1842_*1843insA
ENST00000674945.1:c.4021_4022insA	ENSP00000502333.1:p.Pro1341HisfsTer7
ENST00000680586.1:n.5004_5005insA
ENST00000389652.9:c.3843_3844insA
ENST00000424120.5:c.4345_4346insA	ENSP00000403465.1:p.Pro1449HisfsTer7
ENST00000503292.5:c.4345_4346insA	ENSP00000421809.1:p.Pro1449HisfsTer7
ENST00000506643.4:c.2643-29_2643-28insA
ENST00000513035.1:n.244_245insA
ENST00000514039.5:c.54-1292_54-1291insA
ENST00000634028.1:c.4151_4152insA	ENSP00000488669.1:n.4151_4152insA
NM_001080522.2:c.4345_4346insA , LRG_697t1:c.4345_4346insA	NP_001073991.2:p.Pro1449HisfsTer7
XM_005248177.1:c.4345_4346insA	XP_005248234.1:p.Pro1449HisfsTer7
XM_011513869.1:c.4363_4364insA	XP_011512171.1:p.Pro1455HisfsTer7
XM_011513870.1:c.4363_4364insA	XP_011512172.1:p.Pro1455HisfsTer7
XM_011513871.1:c.4216_4217insA	XP_011512173.1:p.Pro1406HisfsTer7
XM_017008482.1:c.4198_4199insA	XP_016863971.1:p.Pro1400HisfsTer7
NM_001378615.1:c.4345_4346insA MANE Select	NP_001365544.1:p.Pro1449HisfsTer7
NM_001378617.1:c.4198_4199insA	NP_001365546.1:p.Pro1400HisfsTer7