Canonical Allele Identifier: CA2864023

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 347844
• ClinVar RCV Id: RCV000295725 ; RCV000392515 ; RCV000513260 ; RCV001083473
• dbSNP Id: rs182369056
• ExAC: 4:15560802 G / A
• gnomAD v2: 4-15560802-G-A
• gnomAD v3: 4-15559179-G-A
• gnomAD v4: 4-15559179-G-A
• MyVariant Identifiers: chr4:g.15560802G>A (hg19) ; chr4:g.15559179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559179G>A , CM000666.2:g.15559179G>A	GRCh38
NC_000004.11:g.15560802G>A , CM000666.1:g.15560802G>A	GRCh37
NC_000004.10:g.15169900G>A	NCBI36
NG_013035.1:g.94314G>A , LRG_697:g.94314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2844G>A	ENSP00000374303.8:p.Arg948=
ENST00000424120.6:c.2844G>A MANE Select	ENSP00000403465.1:p.Arg948=
ENST00000503292.6:c.2844G>A	ENSP00000421809.1:p.Arg948=
ENST00000506643.5:c.2697G>A	ENSP00000422931.2:p.Arg899=
ENST00000634028.2:c.2697G>A	ENSP00000488669.2:p.Arg899=
ENST00000650860.2:c.2697G>A	ENSP00000498775.1:p.Arg899=
ENST00000674945.1:c.2697G>A	ENSP00000502333.1:p.Arg899=
ENST00000675619.1:n.923G>A
ENST00000675768.1:n.64G>A
ENST00000676337.1:c.2697G>A	ENSP00000501728.1:p.Arg899=
ENST00000680586.1:n.771G>A
ENST00000389652.9:c.2306G>A
ENST00000424120.5:c.2844G>A	ENSP00000403465.1:p.Arg948=
ENST00000503292.5:c.2844G>A	ENSP00000421809.1:p.Arg948=
ENST00000506643.4:c.1172G>A
ENST00000634028.1:c.2827G>A	ENSP00000488669.1:n.2827G>A
NM_001080522.2:c.2844G>A , LRG_697t1:c.2844G>A	NP_001073991.2:p.Arg948=
XM_005248177.1:c.2844G>A	XP_005248234.1:p.Arg948=
XM_011513869.1:c.2844G>A	XP_011512171.1:p.Arg948=
XM_011513870.1:c.2844G>A	XP_011512172.1:p.Arg948=
XM_011513871.1:c.2697G>A	XP_011512173.1:p.Arg899=
XM_011513872.1:c.2844G>A	XP_011512174.1:p.Arg948=
XM_011513873.1:c.2844G>A	XP_011512175.1:p.Arg948=
XM_011513872.3:c.2844G>A	XP_011512174.1:p.Arg948=
XM_017008482.1:c.2697G>A	XP_016863971.1:p.Arg899=
XR_001741296.1:n.3044G>A
NM_001378615.1:c.2844G>A MANE Select	NP_001365544.1:p.Arg948=
NM_001378617.1:c.2697G>A	NP_001365546.1:p.Arg899=