Canonical Allele Identifier: CA2863295

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 279737
• ClinVar RCV Id: RCV000331852 ; RCV001305618
• dbSNP Id: rs373080748
• ExAC: 4:15482361 G / A
• gnomAD v2: 4-15482361-G-A
• gnomAD v3: 4-15480737-G-A
• gnomAD v4: 4-15480737-G-A
• MyVariant Identifiers: chr4:g.15482361G>A (hg19) ; chr4:g.15480737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15480737G>A , CM000666.2:g.15480737G>A	GRCh38
NC_000004.11:g.15482361G>A , CM000666.1:g.15482361G>A	GRCh37
NC_000004.10:g.15091459G>A	NCBI36
NG_013035.1:g.15873G>A , LRG_697:g.15873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.157G>A	ENSP00000374303.8:p.Glu53Lys
ENST00000424120.6:c.157G>A MANE Select	ENSP00000403465.1:p.Glu53Lys
ENST00000503292.6:c.157G>A	ENSP00000421809.1:p.Glu53Lys
ENST00000506643.5:c.10G>A	ENSP00000422931.2:p.Glu4Lys
ENST00000511544.6:c.*45G>A	ENSP00000426109.2:n.*45G>A
ENST00000512702.6:c.157G>A	ENSP00000422875.2:p.Glu53Lys
ENST00000514450.3:c.157G>A	ENSP00000502062.1:p.Glu53Lys
ENST00000515124.6:c.157G>A	ENSP00000424368.1:p.Glu53Lys
ENST00000634028.2:c.10G>A	ENSP00000488669.2:p.Glu4Lys
ENST00000650860.2:c.10G>A	ENSP00000498775.1:p.Glu4Lys
ENST00000651385.1:c.10G>A	ENSP00000499005.1:p.Glu4Lys
ENST00000652443.1:c.10G>A	ENSP00000502719.1:p.Glu4Lys
ENST00000674945.1:c.10G>A	ENSP00000502333.1:p.Glu4Lys
ENST00000676337.1:c.10G>A	ENSP00000501728.1:p.Glu4Lys
ENST00000424120.5:c.157G>A	ENSP00000403465.1:p.Glu53Lys
ENST00000438599.6:c.263G>A	ENSP00000401154.2:p.Arg88Gln
ENST00000503292.5:c.157G>A	ENSP00000421809.1:p.Glu53Lys
ENST00000503658.2:c.263G>A	ENSP00000426846.1:p.Arg88Gln
ENST00000507954.5:c.157G>A	ENSP00000427221.1:p.Glu53Lys
ENST00000511544.5:c.*45G>A	ENSP00000426109.2:n.*45G>A
ENST00000512702.5:c.157G>A	ENSP00000422875.1:p.Glu53Lys
ENST00000513811.5:n.337G>A
ENST00000514450.2:n.312G>A
ENST00000515124.5:c.157G>A	ENSP00000424368.1:p.Glu53Lys
ENST00000634028.1:c.140G>A	ENSP00000488669.1:p.Arg47Gln
NM_001080522.2:c.157G>A , LRG_697t1:c.157G>A	NP_001073991.2:p.Glu53Lys
NM_001164720.1:c.157G>A	NP_001158192.1:p.Glu53Lys
NM_020785.2:c.263G>A , LRG_697t2:c.263G>A	NP_065836.2:p.Arg88Gln
XM_005248177.1:c.157G>A	XP_005248234.1:p.Glu53Lys
XM_011513869.1:c.157G>A	XP_011512171.1:p.Glu53Lys
XM_011513870.1:c.157G>A	XP_011512172.1:p.Glu53Lys
XM_011513871.1:c.10G>A	XP_011512173.1:p.Glu4Lys
XM_011513872.1:c.157G>A	XP_011512174.1:p.Glu53Lys
XM_011513873.1:c.157G>A	XP_011512175.1:p.Glu53Lys
XM_011513874.1:c.157G>A	XP_011512176.1:p.Glu53Lys
XM_011513872.3:c.157G>A	XP_011512174.1:p.Glu53Lys
XM_011513874.2:c.157G>A	XP_011512176.1:p.Glu53Lys
XM_017008482.1:c.10G>A	XP_016863971.1:p.Glu4Lys
XR_001741296.1:n.357G>A
NM_001164720.2:c.157G>A	NP_001158192.1:p.Glu53Lys
NM_001164720.3:c.157G>A	NP_001158192.1:p.Glu53Lys
NM_001378615.1:c.157G>A MANE Select	NP_001365544.1:p.Glu53Lys
NM_001378617.1:c.10G>A	NP_001365546.1:p.Glu4Lys