Canonical Allele Identifier: CA210272

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 217605
• ClinVar RCV Id: RCV000201574
• dbSNP Id: rs200904521
• MyVariant Identifiers: chr4:g.15556832C>A (hg19) ; chr4:g.15555209C>A (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15555209C>A , CM000666.2:g.15555209C>A	GRCh38
NC_000004.11:g.15556832C>A , CM000666.1:g.15556832C>A	GRCh37
NC_000004.10:g.15165930C>A	NCBI36
NG_013035.1:g.90344C>A , LRG_697:g.90344C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.2624C>A	ENSP00000374303.8:p.Ser875Ter
ENST00000424120.6:c.2624C>A MANE Select	ENSP00000403465.1:p.Ser875Ter
ENST00000503292.6:c.2624C>A	ENSP00000421809.1:p.Ser875Ter
ENST00000506643.5:c.2477C>A	ENSP00000422931.2:p.Ser826Ter
ENST00000634028.2:c.2477C>A	ENSP00000488669.2:p.Ser826Ter
ENST00000650860.2:c.2477C>A	ENSP00000498775.1:p.Ser826Ter
ENST00000674945.1:c.2477C>A	ENSP00000502333.1:p.Ser826Ter
ENST00000675619.1:n.703C>A
ENST00000676337.1:c.2477C>A	ENSP00000501728.1:p.Ser826Ter
ENST00000680586.1:n.551C>A
ENST00000389652.9:c.2086C>A
ENST00000424120.5:c.2624C>A	ENSP00000403465.1:p.Ser875Ter
ENST00000503292.5:c.2624C>A	ENSP00000421809.1:p.Ser875Ter
ENST00000506643.4:c.952C>A
ENST00000512202.1:n.529C>A
ENST00000634028.1:c.2607C>A	ENSP00000488669.1:n.2607C>A
NM_001080522.2:c.2624C>A , LRG_697t1:c.2624C>A	NP_001073991.2:p.Ser875Ter
XM_005248177.1:c.2624C>A	XP_005248234.1:p.Ser875Ter
XM_011513869.1:c.2624C>A	XP_011512171.1:p.Ser875Ter
XM_011513870.1:c.2624C>A	XP_011512172.1:p.Ser875Ter
XM_011513871.1:c.2477C>A	XP_011512173.1:p.Ser826Ter
XM_011513872.1:c.2624C>A	XP_011512174.1:p.Ser875Ter
XM_011513873.1:c.2624C>A	XP_011512175.1:p.Ser875Ter
XM_011513872.3:c.2624C>A	XP_011512174.1:p.Ser875Ter
XM_017008482.1:c.2477C>A	XP_016863971.1:p.Ser826Ter
XR_001741296.1:n.2824C>A
NM_001378615.1:c.2624C>A MANE Select	NP_001365544.1:p.Ser875Ter
NM_001378617.1:c.2477C>A	NP_001365546.1:p.Ser826Ter