Canonical Allele Identifier: CA2863839

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 347764
• ClinVar RCV Id: RCV000298157 ; RCV000336743 ; RCV000394824 ; RCV000731265 ; RCV001038299 ; RCV002520210
• dbSNP Id: rs369476930
• ExAC: 4:15542512 G / A
• gnomAD v2: 4-15542512-G-A
• gnomAD v3: 4-15540889-G-A
• gnomAD v4: 4-15540889-G-A
• MyVariant Identifiers: chr4:g.15542512G>A (hg19) ; chr4:g.15540889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540889G>A , CM000666.2:g.15540889G>A	GRCh38
NC_000004.11:g.15542512G>A , CM000666.1:g.15542512G>A	GRCh37
NC_000004.10:g.15151610G>A	NCBI36
NG_013035.1:g.76024G>A , LRG_697:g.76024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2056G>A	ENSP00000374303.8:p.Val686Met
ENST00000424120.6:c.2056G>A MANE Select	ENSP00000403465.1:p.Val686Met
ENST00000503292.6:c.2056G>A	ENSP00000421809.1:p.Val686Met
ENST00000506643.5:c.1909G>A	ENSP00000422931.2:p.Val637Met
ENST00000634028.2:c.1909G>A	ENSP00000488669.2:p.Val637Met
ENST00000650860.2:c.1909G>A	ENSP00000498775.1:p.Val637Met
ENST00000674945.1:c.1909G>A	ENSP00000502333.1:p.Val637Met
ENST00000675619.1:n.135G>A
ENST00000676337.1:c.1909G>A	ENSP00000501728.1:p.Val637Met
ENST00000389652.9:c.1518G>A
ENST00000424120.5:c.2056G>A	ENSP00000403465.1:p.Val686Met
ENST00000503292.5:c.2056G>A	ENSP00000421809.1:p.Val686Met
ENST00000506643.4:c.384G>A
ENST00000513811.5:n.2236G>A
ENST00000634028.1:c.2039G>A	ENSP00000488669.1:n.2039G>A
NM_001080522.2:c.2056G>A , LRG_697t1:c.2056G>A	NP_001073991.2:p.Val686Met
XM_005248177.1:c.2056G>A	XP_005248234.1:p.Val686Met
XM_011513869.1:c.2056G>A	XP_011512171.1:p.Val686Met
XM_011513870.1:c.2056G>A	XP_011512172.1:p.Val686Met
XM_011513871.1:c.1909G>A	XP_011512173.1:p.Val637Met
XM_011513872.1:c.2056G>A	XP_011512174.1:p.Val686Met
XM_011513873.1:c.2056G>A	XP_011512175.1:p.Val686Met
XM_011513872.3:c.2056G>A	XP_011512174.1:p.Val686Met
XM_017008482.1:c.1909G>A	XP_016863971.1:p.Val637Met
XR_001741296.1:n.2256G>A
NM_001378615.1:c.2056G>A MANE Select	NP_001365544.1:p.Val686Met
NM_001378617.1:c.1909G>A	NP_001365546.1:p.Val637Met