Canonical Allele Identifier: CA356412838

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 501585
• ClinVar RCV Id: RCV000592290 ; RCV002532603
• dbSNP Id: rs1273769297
• gnomAD v3: 4-15559226-A-G
• gnomAD v4: 4-15559226-A-G
• MyVariant Identifiers: chr4:g.15560849A>G (hg19) ; chr4:g.15559226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559226A>G , CM000666.2:g.15559226A>G	GRCh38
NC_000004.11:g.15560849A>G , CM000666.1:g.15560849A>G	GRCh37
NC_000004.10:g.15169947A>G	NCBI36
NG_013035.1:g.94361A>G , LRG_697:g.94361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2891A>G	ENSP00000374303.8:p.His964Arg
ENST00000424120.6:c.2891A>G MANE Select	ENSP00000403465.1:p.His964Arg
ENST00000503292.6:c.2891A>G	ENSP00000421809.1:p.His964Arg
ENST00000506643.5:c.2744A>G	ENSP00000422931.2:p.His915Arg
ENST00000634028.2:c.2744A>G	ENSP00000488669.2:p.His915Arg
ENST00000650860.2:c.2744A>G	ENSP00000498775.1:p.His915Arg
ENST00000674945.1:c.2744A>G	ENSP00000502333.1:p.His915Arg
ENST00000675619.1:n.970A>G
ENST00000675768.1:n.111A>G
ENST00000676337.1:c.2744A>G	ENSP00000501728.1:p.His915Arg
ENST00000680586.1:n.818A>G
ENST00000389652.9:c.2353A>G
ENST00000424120.5:c.2891A>G	ENSP00000403465.1:p.His964Arg
ENST00000503292.5:c.2891A>G	ENSP00000421809.1:p.His964Arg
ENST00000506643.4:c.1219A>G
ENST00000634028.1:c.2874A>G	ENSP00000488669.1:n.2874A>G
NM_001080522.2:c.2891A>G , LRG_697t1:c.2891A>G	NP_001073991.2:p.His964Arg
XM_005248177.1:c.2891A>G	XP_005248234.1:p.His964Arg
XM_011513869.1:c.2891A>G	XP_011512171.1:p.His964Arg
XM_011513870.1:c.2891A>G	XP_011512172.1:p.His964Arg
XM_011513871.1:c.2744A>G	XP_011512173.1:p.His915Arg
XM_011513872.1:c.2891A>G	XP_011512174.1:p.His964Arg
XM_011513873.1:c.2891A>G	XP_011512175.1:p.His964Arg
XM_011513872.3:c.2891A>G	XP_011512174.1:p.His964Arg
XM_017008482.1:c.2744A>G	XP_016863971.1:p.His915Arg
XR_001741296.1:n.3091A>G
NM_001378615.1:c.2891A>G MANE Select	NP_001365544.1:p.His964Arg
NM_001378617.1:c.2744A>G	NP_001365546.1:p.His915Arg