Canonical Allele Identifier: CA10620305

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 347751
• ClinVar RCV Id: RCV000299608 ; RCV000439648 ; RCV000394720 ; RCV002263625
• dbSNP Id: rs183968785
• gnomAD v2: 4-15474866-G-A
• gnomAD v3: 4-15473242-G-A
• gnomAD v4: 4-15473242-G-A
• MyVariant Identifiers: chr4:g.15474866G>A (hg19) ; chr4:g.15473242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15473242G>A , CM000666.2:g.15473242G>A	GRCh38
NC_000004.11:g.15474866G>A , CM000666.1:g.15474866G>A	GRCh37
NC_000004.10:g.15083964G>A	NCBI36
NG_013035.1:g.8378G>A , LRG_697:g.8378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424120.6:c.-18-2673G>A MANE Select	ENSP00000403465.1:n.-18-2673G>A
ENST00000503292.6:c.-32G>A	ENSP00000421809.1:n.-32G>A
ENST00000511544.6:c.-18-2673G>A	ENSP00000426109.2:n.-18-2673G>A
ENST00000512702.6:c.-32G>A	ENSP00000422875.2:n.-32G>A
ENST00000514450.3:c.-18-2673G>A	ENSP00000502062.1:n.-18-2673G>A
ENST00000515124.6:c.-18-2673G>A	ENSP00000424368.1:n.-18-2673G>A
ENST00000676337.1:c.-165-2673G>A	ENSP00000501728.1:n.-165-2673G>A
ENST00000424120.5:c.-25-2666G>A	ENSP00000403465.1:n.-25-2666G>A
ENST00000438599.6:c.-25-2666G>A	ENSP00000401154.2:n.-25-2666G>A
ENST00000503292.5:c.-32G>A	ENSP00000421809.1:n.-32G>A
ENST00000503658.2:c.-32G>A	ENSP00000426846.1:n.-32G>A
ENST00000507954.5:c.-32G>A	ENSP00000427221.1:n.-32G>A
ENST00000511544.5:c.-18-2673G>A	ENSP00000426109.2:n.-18-2673G>A
ENST00000512702.5:c.-18-2673G>A	ENSP00000422875.1:n.-18-2673G>A
ENST00000513811.5:n.163-2673G>A
ENST00000514450.2:n.138-2673G>A
ENST00000515124.5:c.-18-2673G>A	ENSP00000424368.1:n.-18-2673G>A
NM_001080522.2:c.-32G>A , LRG_697t1:c.-32G>A	NP_001073991.2:n.-32G>A
NM_001164720.1:c.-18-2673G>A	NP_001158192.1:n.-18-2673G>A
NM_020785.2:c.-32G>A , LRG_697t2:c.-32G>A	NP_065836.2:n.-32G>A
XM_005248177.1:c.-18-2673G>A	XP_005248234.1:n.-18-2673G>A
XM_011513869.1:c.-18-2673G>A	XP_011512171.1:n.-18-2673G>A
XM_011513870.1:c.-32G>A	XP_011512172.1:n.-32G>A
XM_011513872.1:c.-18-2673G>A	XP_011512174.1:n.-18-2673G>A
XM_011513873.1:c.-18-2673G>A	XP_011512175.1:n.-18-2673G>A
XM_011513874.1:c.-32G>A	XP_011512176.1:n.-32G>A
XM_011513872.3:c.-18-2673G>A	XP_011512174.1:n.-18-2673G>A
XM_011513874.2:c.-32G>A	XP_011512176.1:n.-32G>A
XR_001741296.1:n.183-2673G>A
NM_001164720.2:c.-18-2673G>A	NP_001158192.1:n.-18-2673G>A
NM_001164720.3:c.-18-2673G>A	NP_001158192.1:n.-18-2673G>A
NM_001378615.1:c.-18-2673G>A MANE Select	NP_001365544.1:n.-18-2673G>A