Canonical Allele Identifier: CA2863437

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 347754
• ClinVar RCV Id: RCV000336636 ; RCV000281651 ; RCV000372448 ; RCV000730673 ; RCV001081912
• dbSNP Id: rs369022150
• ExAC: 4:15512865 G / A
• gnomAD v2: 4-15512865-G-A
• gnomAD v3: 4-15511242-G-A
• gnomAD v4: 4-15511242-G-A
• MyVariant Identifiers: chr4:g.15512865G>A (hg19) ; chr4:g.15511242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15511242G>A , CM000666.2:g.15511242G>A	GRCh38
NC_000004.11:g.15512865G>A , CM000666.1:g.15512865G>A	GRCh37
NC_000004.10:g.15121963G>A	NCBI36
NG_013035.1:g.46377G>A , LRG_697:g.46377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.541-5G>A	ENSP00000374303.8:n.541-5G>A
ENST00000424120.6:c.541-5G>A MANE Select	ENSP00000403465.1:n.541-5G>A
ENST00000503292.6:c.541-5G>A	ENSP00000421809.1:n.541-5G>A
ENST00000506643.5:c.394-5G>A	ENSP00000422931.2:n.394-5G>A
ENST00000512702.6:c.541-5G>A	ENSP00000422875.2:n.541-5G>A
ENST00000514450.3:c.541-5G>A	ENSP00000502062.1:n.541-5G>A
ENST00000634028.2:c.394-5G>A	ENSP00000488669.2:n.394-5G>A
ENST00000650860.2:c.394-5G>A	ENSP00000498775.1:n.394-5G>A
ENST00000651385.1:c.394-5G>A	ENSP00000499005.1:n.394-5G>A
ENST00000674945.1:c.394-5G>A	ENSP00000502333.1:n.394-5G>A
ENST00000676337.1:c.394-5G>A	ENSP00000501728.1:n.394-5G>A
ENST00000424120.5:c.541-5G>A	ENSP00000403465.1:n.541-5G>A
ENST00000503292.5:c.541-5G>A	ENSP00000421809.1:n.541-5G>A
ENST00000512702.5:c.541-5G>A	ENSP00000422875.1:n.541-5G>A
ENST00000513811.5:n.721-5G>A
ENST00000514450.2:n.696-5G>A
ENST00000634028.1:c.524-5G>A	ENSP00000488669.1:n.524-5G>A
NM_001080522.2:c.541-5G>A , LRG_697t1:c.541-5G>A	NP_001073991.2:n.541-5G>A
XM_005248177.1:c.541-5G>A	XP_005248234.1:n.541-5G>A
XM_011513869.1:c.541-5G>A	XP_011512171.1:n.541-5G>A
XM_011513870.1:c.541-5G>A	XP_011512172.1:n.541-5G>A
XM_011513871.1:c.394-5G>A	XP_011512173.1:n.394-5G>A
XM_011513872.1:c.541-5G>A	XP_011512174.1:n.541-5G>A
XM_011513873.1:c.541-5G>A	XP_011512175.1:n.541-5G>A
XM_011513872.3:c.541-5G>A	XP_011512174.1:n.541-5G>A
XM_017008482.1:c.394-5G>A	XP_016863971.1:n.394-5G>A
XR_001741296.1:n.741-5G>A
NM_001378615.1:c.541-5G>A MANE Select	NP_001365544.1:n.541-5G>A
NM_001378617.1:c.394-5G>A	NP_001365546.1:n.394-5G>A