Canonical Allele Identifier: CA2863521
Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 506421
dbSNP Id: rs201465430
gnomAD v2: 4-15517532-T-C
gnomAD v3: 4-15515909-T-C
gnomAD v4: 4-15515909-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15515909T>C , CM000666.2:g.15515909T>C GRCh38
NC_000004.11:g.15517532T>C , CM000666.1:g.15517532T>C GRCh37
NC_000004.10:g.15126630T>C NCBI36
NG_013035.1:g.51044T>C , LRG_697:g.51044T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.922T>C ENSP00000374303.8:p.Phe308Leu
ENST00000424120.6:c.922T>C MANE Select ENSP00000403465.1:p.Phe308Leu
ENST00000503292.6:c.922T>C ENSP00000421809.1:p.Phe308Leu
ENST00000506643.5:c.775T>C ENSP00000422931.2:p.Phe259Leu
ENST00000512702.6:c.922T>C ENSP00000422875.2:p.Phe308Leu
ENST00000634028.2:c.775T>C ENSP00000488669.2:p.Phe259Leu
ENST00000650860.2:c.775T>C ENSP00000498775.1:p.Phe259Leu
ENST00000651385.1:c.775T>C ENSP00000499005.1:p.Phe259Leu
ENST00000674945.1:c.775T>C ENSP00000502333.1:p.Phe259Leu
ENST00000676337.1:c.775T>C ENSP00000501728.1:p.Phe259Leu
ENST00000389652.9:c.384T>C
ENST00000424120.5:c.922T>C ENSP00000403465.1:p.Phe308Leu
ENST00000503292.5:c.922T>C ENSP00000421809.1:p.Phe308Leu
ENST00000512702.5:c.922T>C ENSP00000422875.1:p.Phe308Leu
ENST00000513811.5:n.1102T>C
ENST00000634028.1:c.905T>C ENSP00000488669.1:n.905T>C
NM_001080522.2:c.922T>C , LRG_697t1:c.922T>C NP_001073991.2:p.Phe308Leu
XM_005248177.1:c.922T>C XP_005248234.1:p.Phe308Leu
XM_011513869.1:c.922T>C XP_011512171.1:p.Phe308Leu
XM_011513870.1:c.922T>C XP_011512172.1:p.Phe308Leu
XM_011513871.1:c.775T>C XP_011512173.1:p.Phe259Leu
XM_011513872.1:c.922T>C XP_011512174.1:p.Phe308Leu
XM_011513873.1:c.922T>C XP_011512175.1:p.Phe308Leu
XM_011513872.3:c.922T>C XP_011512174.1:p.Phe308Leu
XM_017008482.1:c.775T>C XP_016863971.1:p.Phe259Leu
XR_001741296.1:n.1122T>C
NM_001378615.1:c.922T>C MANE Select NP_001365544.1:p.Phe308Leu
NM_001378617.1:c.775T>C NP_001365546.1:p.Phe259Leu