Canonical Allele Identifier: CA279522

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 217601
• ClinVar RCV Id: RCV000201741 ; RCV003765303
• dbSNP Id: rs863225173
• gnomAD v3: 4-15563474-T-C
• gnomAD v4: 4-15563474-T-C
• MyVariant Identifiers: chr4:g.15565097T>C (hg19) ; chr4:g.15563474T>C (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15563474T>C , CM000666.2:g.15563474T>C	GRCh38
NC_000004.11:g.15565097T>C , CM000666.1:g.15565097T>C	GRCh37
NC_000004.10:g.15174195T>C	NCBI36
NG_013035.1:g.98609T>C , LRG_697:g.98609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3149T>C	ENSP00000374303.8:p.Val1050Ala
ENST00000424120.6:c.3134T>C MANE Select	ENSP00000403465.1:p.Val1045Ala
ENST00000503292.6:c.3134T>C	ENSP00000421809.1:p.Val1045Ala
ENST00000506643.5:c.2987T>C	ENSP00000422931.2:p.Val996Ala
ENST00000634028.2:c.2987T>C	ENSP00000488669.2:p.Val996Ala
ENST00000650860.2:c.*140T>C	ENSP00000498775.1:n.*140T>C
ENST00000674945.1:c.2987T>C	ENSP00000502333.1:p.Val996Ala
ENST00000675619.1:n.3945T>C
ENST00000675768.1:n.354T>C
ENST00000676337.1:c.*140T>C	ENSP00000501728.1:n.*140T>C
ENST00000680586.1:n.3793T>C
ENST00000389652.9:c.2611T>C
ENST00000424120.5:c.3134T>C	ENSP00000403465.1:p.Val1045Ala
ENST00000503292.5:c.3134T>C	ENSP00000421809.1:p.Val1045Ala
ENST00000506643.4:c.1462T>C
ENST00000634028.1:c.3117T>C	ENSP00000488669.1:n.3117T>C
NM_001080522.2:c.3134T>C , LRG_697t1:c.3134T>C	NP_001073991.2:p.Val1045Ala
XM_005248177.1:c.3134T>C	XP_005248234.1:p.Val1045Ala
XM_011513869.1:c.3134T>C	XP_011512171.1:p.Val1045Ala
XM_011513870.1:c.3134T>C	XP_011512172.1:p.Val1045Ala
XM_011513871.1:c.2987T>C	XP_011512173.1:p.Val996Ala
XM_017008482.1:c.2987T>C	XP_016863971.1:p.Val996Ala
XR_001741296.1:n.3379T>C
NM_001378615.1:c.3134T>C MANE Select	NP_001365544.1:p.Val1045Ala
NM_001378617.1:c.2987T>C	NP_001365546.1:p.Val996Ala