Canonical Allele Identifier: CA2864149

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 2936642
• ClinVar RCV Id: RCV003798880
• dbSNP Id: rs371089021
• ExAC: 4:15569380 C / T
• gnomAD v2: 4-15569380-C-T
• gnomAD v3: 4-15567757-C-T
• gnomAD v4: 4-15567757-C-T
• MyVariant Identifiers: chr4:g.15569380C>T (hg19) ; chr4:g.15567757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567757C>T , CM000666.2:g.15567757C>T	GRCh38
NC_000004.11:g.15569380C>T , CM000666.1:g.15569380C>T	GRCh37
NC_000004.10:g.15178478C>T	NCBI36
NG_013035.1:g.102892C>T , LRG_697:g.102892C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3384C>T	ENSP00000374303.8:p.Ser1128=
ENST00000424120.6:c.3369C>T MANE Select	ENSP00000403465.1:p.Ser1123=
ENST00000503292.6:c.3369C>T	ENSP00000421809.1:p.Ser1123=
ENST00000506643.5:c.3222C>T	ENSP00000422931.2:p.Ser1074=
ENST00000634028.2:c.3222C>T	ENSP00000488669.2:p.Ser1074=
ENST00000650860.2:c.*375C>T	ENSP00000498775.1:n.*375C>T
ENST00000674945.1:c.3222C>T	ENSP00000502333.1:p.Ser1074=
ENST00000675619.1:n.4180C>T
ENST00000675768.1:n.589C>T
ENST00000676337.1:c.*375C>T	ENSP00000501728.1:n.*375C>T
ENST00000680586.1:n.4028C>T
ENST00000389652.9:c.2846C>T
ENST00000424120.5:c.3369C>T	ENSP00000403465.1:p.Ser1123=
ENST00000503292.5:c.3369C>T	ENSP00000421809.1:p.Ser1123=
ENST00000506643.4:c.1697C>T
ENST00000634028.1:c.3352C>T	ENSP00000488669.1:n.3352C>T
NM_001080522.2:c.3369C>T , LRG_697t1:c.3369C>T	NP_001073991.2:p.Ser1123=
XM_005248177.1:c.3369C>T	XP_005248234.1:p.Ser1123=
XM_011513869.1:c.3369C>T	XP_011512171.1:p.Ser1123=
XM_011513870.1:c.3369C>T	XP_011512172.1:p.Ser1123=
XM_011513871.1:c.3222C>T	XP_011512173.1:p.Ser1074=
XM_017008482.1:c.3222C>T	XP_016863971.1:p.Ser1074=
XR_001741296.1:n.3614C>T
NM_001378615.1:c.3369C>T MANE Select	NP_001365544.1:p.Ser1123=
NM_001378617.1:c.3222C>T	NP_001365546.1:p.Ser1074=