Canonical Allele Identifier: CA2864148

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 2050823
• ClinVar RCV Id: RCV002922101
• dbSNP Id: rs377404804
• ExAC: 4:15569379 G / C
• gnomAD v2: 4-15569379-G-C
• gnomAD v4: 4-15567756-G-C
• MyVariant Identifiers: chr4:g.15569379G>C (hg19) ; chr4:g.15567756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567756G>C , CM000666.2:g.15567756G>C	GRCh38
NC_000004.11:g.15569379G>C , CM000666.1:g.15569379G>C	GRCh37
NC_000004.10:g.15178477G>C	NCBI36
NG_013035.1:g.102891G>C , LRG_697:g.102891G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3383G>C	ENSP00000374303.8:p.Ser1128Thr
ENST00000424120.6:c.3368G>C MANE Select	ENSP00000403465.1:p.Ser1123Thr
ENST00000503292.6:c.3368G>C	ENSP00000421809.1:p.Ser1123Thr
ENST00000506643.5:c.3221G>C	ENSP00000422931.2:p.Ser1074Thr
ENST00000634028.2:c.3221G>C	ENSP00000488669.2:p.Ser1074Thr
ENST00000650860.2:c.*374G>C	ENSP00000498775.1:n.*374G>C
ENST00000674945.1:c.3221G>C	ENSP00000502333.1:p.Ser1074Thr
ENST00000675619.1:n.4179G>C
ENST00000675768.1:n.588G>C
ENST00000676337.1:c.*374G>C	ENSP00000501728.1:n.*374G>C
ENST00000680586.1:n.4027G>C
ENST00000389652.9:c.2845G>C
ENST00000424120.5:c.3368G>C	ENSP00000403465.1:p.Ser1123Thr
ENST00000503292.5:c.3368G>C	ENSP00000421809.1:p.Ser1123Thr
ENST00000506643.4:c.1696G>C
ENST00000634028.1:c.3351G>C	ENSP00000488669.1:n.3351G>C
NM_001080522.2:c.3368G>C , LRG_697t1:c.3368G>C	NP_001073991.2:p.Ser1123Thr
XM_005248177.1:c.3368G>C	XP_005248234.1:p.Ser1123Thr
XM_011513869.1:c.3368G>C	XP_011512171.1:p.Ser1123Thr
XM_011513870.1:c.3368G>C	XP_011512172.1:p.Ser1123Thr
XM_011513871.1:c.3221G>C	XP_011512173.1:p.Ser1074Thr
XM_017008482.1:c.3221G>C	XP_016863971.1:p.Ser1074Thr
XR_001741296.1:n.3613G>C
NM_001378615.1:c.3368G>C MANE Select	NP_001365544.1:p.Ser1123Thr
NM_001378617.1:c.3221G>C	NP_001365546.1:p.Ser1074Thr