Canonical Allele Identifier: CA356433878
Community Standard Title: NM_001378615.1(CC2D2A):c.4549A>T (p.Thr1517Ser)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15599581A>T , CM000666.2:g.15599581A>T GRCh38
NC_000004.11:g.15601204A>T , CM000666.1:g.15601204A>T GRCh37
NC_000004.10:g.15210302A>T NCBI36
NG_013035.1:g.134716A>T , LRG_697:g.134716A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.4549A>T MANE Select NP_001365544.1:p.Thr1517Ser
ENST00000424120.6:c.4549A>T MANE Select ENSP00000403465.1:p.Thr1517Ser
NM_001080522.2:c.4549A>T , LRG_697t1:c.4549A>T NP_001073991.2:p.Thr1517Ser
NM_001378617.1:c.4402A>T NP_001365546.1:p.Thr1468Ser
ENST00000389652.11:c.4585A>T ENSP00000374303.8:p.Thr1529Ser
ENST00000389652.9:c.4047A>T
ENST00000424120.5:c.4549A>T ENSP00000403465.1:p.Thr1517Ser
ENST00000503292.5:c.4549A>T ENSP00000421809.1:p.Thr1517Ser
ENST00000503292.6:c.4549A>T ENSP00000421809.1:p.Thr1517Ser
ENST00000506643.4:c.2818A>T
ENST00000506643.5:c.4402A>T ENSP00000422931.2:p.Thr1468Ser
ENST00000514039.5:c.165A>T
ENST00000514039.6:c.655A>T ENSP00000488534.2:p.Thr219Ser
ENST00000634028.1:c.4355A>T ENSP00000488669.1:n.4355A>T
ENST00000634028.2:c.4343A>T ENSP00000488669.2:n.4343A>T
ENST00000650860.2:c.*2046A>T ENSP00000498775.1:n.*2046A>T
ENST00000674945.1:c.4225A>T ENSP00000502333.1:p.Thr1409Ser
ENST00000680586.1:n.5208A>T
XM_005248177.1:c.4549A>T XP_005248234.1:p.Thr1517Ser
XM_011513869.1:c.4567A>T XP_011512171.1:p.Thr1523Ser
XM_011513870.1:c.4567A>T XP_011512172.1:p.Thr1523Ser
XM_011513871.1:c.4420A>T XP_011512173.1:p.Thr1474Ser
XM_017008482.1:c.4402A>T XP_016863971.1:p.Thr1468Ser