Canonical Allele Identifier: CA114469

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 743
• ClinVar RCV Id: RCV000000779 ; RCV000730543
• dbSNP Id: rs118204051
• gnomAD v2: 4-15569375-C-T
• gnomAD v4: 4-15567752-C-T
• COSMIC: COSM4488675 ; COSM4488676
• MyVariant Identifiers: chr4:g.15569375C>T (hg19) ; chr4:g.15567752C>T (hg38)
• PubMed: PMID:18950740 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567752C>T , CM000666.2:g.15567752C>T	GRCh38
NC_000004.11:g.15569375C>T , CM000666.1:g.15569375C>T	GRCh37
NC_000004.10:g.15178473C>T	NCBI36
NG_013035.1:g.102887C>T , LRG_697:g.102887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3379C>T	ENSP00000374303.8:p.Pro1127Ser
ENST00000424120.6:c.3364C>T MANE Select	ENSP00000403465.1:p.Pro1122Ser
ENST00000503292.6:c.3364C>T	ENSP00000421809.1:p.Pro1122Ser
ENST00000506643.5:c.3217C>T	ENSP00000422931.2:p.Pro1073Ser
ENST00000634028.2:c.3217C>T	ENSP00000488669.2:p.Pro1073Ser
ENST00000650860.2:c.*370C>T	ENSP00000498775.1:n.*370C>T
ENST00000674945.1:c.3217C>T	ENSP00000502333.1:p.Pro1073Ser
ENST00000675619.1:n.4175C>T
ENST00000675768.1:n.584C>T
ENST00000676337.1:c.*370C>T	ENSP00000501728.1:n.*370C>T
ENST00000680586.1:n.4023C>T
ENST00000389652.9:c.2841C>T
ENST00000424120.5:c.3364C>T	ENSP00000403465.1:p.Pro1122Ser
ENST00000503292.5:c.3364C>T	ENSP00000421809.1:p.Pro1122Ser
ENST00000506643.4:c.1692C>T
ENST00000634028.1:c.3347C>T	ENSP00000488669.1:n.3347C>T
NM_001080522.2:c.3364C>T , LRG_697t1:c.3364C>T	NP_001073991.2:p.Pro1122Ser
XM_005248177.1:c.3364C>T	XP_005248234.1:p.Pro1122Ser
XM_011513869.1:c.3364C>T	XP_011512171.1:p.Pro1122Ser
XM_011513870.1:c.3364C>T	XP_011512172.1:p.Pro1122Ser
XM_011513871.1:c.3217C>T	XP_011512173.1:p.Pro1073Ser
XM_017008482.1:c.3217C>T	XP_016863971.1:p.Pro1073Ser
XR_001741296.1:n.3609C>T
NM_001378615.1:c.3364C>T MANE Select	NP_001365544.1:p.Pro1122Ser
NM_001378617.1:c.3217C>T	NP_001365546.1:p.Pro1073Ser