Canonical Allele Identifier: CA205784

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 210610
• ClinVar RCV Id: RCV000192749 ; RCV000293449 ; RCV000348318 ; RCV001521745 ; RCV001697269 ; RCV004541237
• dbSNP Id: rs370492044
• ExAC: 4:15581691 T / C
• gnomAD v2: 4-15581691-T-C
• gnomAD v3: 4-15580068-T-C
• gnomAD v4: 4-15580068-T-C
• MyVariant Identifiers: chr4:g.15581691T>C (hg19) ; chr4:g.15580068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15580068T>C , CM000666.2:g.15580068T>C	GRCh38
NC_000004.11:g.15581691T>C , CM000666.1:g.15581691T>C	GRCh37
NC_000004.10:g.15190789T>C	NCBI36
NG_013035.1:g.115203T>C , LRG_697:g.115203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3908T>C	ENSP00000374303.8:p.Ile1303Thr
ENST00000424120.6:c.3872T>C MANE Select	ENSP00000403465.1:p.Ile1291Thr
ENST00000503292.6:c.3872T>C	ENSP00000421809.1:p.Ile1291Thr
ENST00000506643.5:c.3725T>C	ENSP00000422931.2:p.Ile1242Thr
ENST00000514039.6:c.101T>C	ENSP00000488534.2:p.Ile34Thr
ENST00000634028.2:c.3725T>C	ENSP00000488669.2:p.Ile1242Thr
ENST00000650860.2:c.*1369T>C	ENSP00000498775.1:n.*1369T>C
ENST00000674945.1:c.3548T>C	ENSP00000502333.1:p.Ile1183Thr
ENST00000675619.1:n.4704T>C
ENST00000675768.1:n.1092T>C
ENST00000676337.1:c.*878T>C	ENSP00000501728.1:n.*878T>C
ENST00000680586.1:n.4531T>C
ENST00000389652.9:c.3370T>C
ENST00000424120.5:c.3872T>C	ENSP00000403465.1:p.Ile1291Thr
ENST00000503292.5:c.3872T>C	ENSP00000421809.1:p.Ile1291Thr
ENST00000506643.4:c.2200T>C
ENST00000634028.1:c.3678T>C	ENSP00000488669.1:n.3678T>C
NM_001080522.2:c.3872T>C , LRG_697t1:c.3872T>C	NP_001073991.2:p.Ile1291Thr
XM_005248177.1:c.3872T>C	XP_005248234.1:p.Ile1291Thr
XM_011513869.1:c.3872T>C	XP_011512171.1:p.Ile1291Thr
XM_011513870.1:c.3872T>C	XP_011512172.1:p.Ile1291Thr
XM_011513871.1:c.3725T>C	XP_011512173.1:p.Ile1242Thr
XM_017008482.1:c.3725T>C	XP_016863971.1:p.Ile1242Thr
XR_001741296.1:n.4117T>C
NM_001378615.1:c.3872T>C MANE Select	NP_001365544.1:p.Ile1291Thr
NM_001378617.1:c.3725T>C	NP_001365546.1:p.Ile1242Thr