Canonical Allele Identifier: CA92534310

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 2943474
• ClinVar RCV Id: RCV003800592
• dbSNP Id: rs587779732
• gnomAD v4: 4-15596177-C-T
• MyVariant Identifiers: chr4:g.15597800C>T (hg19) ; chr4:g.15596177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596177C>T , CM000666.2:g.15596177C>T	GRCh38
NC_000004.11:g.15597800C>T , CM000666.1:g.15597800C>T	GRCh37
NC_000004.10:g.15206898C>T	NCBI36
NG_013035.1:g.131312C>T , LRG_697:g.131312C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4443C>T	ENSP00000374303.8:p.Ser1481=
ENST00000424120.6:c.4407C>T MANE Select	ENSP00000403465.1:p.Ser1469=
ENST00000503292.6:c.4407C>T	ENSP00000421809.1:p.Ser1469=
ENST00000506643.5:c.4260C>T	ENSP00000422931.2:p.Ser1420=
ENST00000513035.2:n.306C>T
ENST00000514039.6:c.544-1230C>T	ENSP00000488534.2:n.544-1230C>T
ENST00000634028.2:c.4201C>T	ENSP00000488669.2:p.Pro1401Ser
ENST00000650860.2:c.*1904C>T	ENSP00000498775.1:n.*1904C>T
ENST00000674945.1:c.4083C>T	ENSP00000502333.1:p.Ser1361=
ENST00000680586.1:n.5066C>T
ENST00000389652.9:c.3905C>T
ENST00000424120.5:c.4407C>T	ENSP00000403465.1:p.Ser1469=
ENST00000503292.5:c.4407C>T	ENSP00000421809.1:p.Ser1469=
ENST00000506643.4:c.2676C>T
ENST00000513035.1:n.306C>T
ENST00000514039.5:c.54-1230C>T
ENST00000634028.1:c.4213C>T	ENSP00000488669.1:n.4213C>T
NM_001080522.2:c.4407C>T , LRG_697t1:c.4407C>T	NP_001073991.2:p.Ser1469=
XM_005248177.1:c.4407C>T	XP_005248234.1:p.Ser1469=
XM_011513869.1:c.4425C>T	XP_011512171.1:p.Ser1475=
XM_011513870.1:c.4425C>T	XP_011512172.1:p.Ser1475=
XM_011513871.1:c.4278C>T	XP_011512173.1:p.Ser1426=
XM_017008482.1:c.4260C>T	XP_016863971.1:p.Ser1420=
NM_001378615.1:c.4407C>T MANE Select	NP_001365544.1:p.Ser1469=
NM_001378617.1:c.4260C>T	NP_001365546.1:p.Ser1420=