Canonical Allele Identifier: CA2864490

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15601412T>C , CM000666.2:g.15601412T>C	GRCh38
NC_000004.11:g.15603035T>C , CM000666.1:g.15603035T>C	GRCh37
NC_000004.10:g.15212133T>C	NCBI36
NG_013035.1:g.136547T>C , LRG_697:g.136547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4850T>C MANE Select	NP_001365544.1:p.Ile1617Thr
ENST00000424120.6:c.4850T>C MANE Select	ENSP00000403465.1:p.Ile1617Thr
NM_001080522.2:c.4850T>C , LRG_697t1:c.4850T>C	NP_001073991.2:p.Ile1617Thr
NM_001378617.1:c.4703T>C	NP_001365546.1:p.Ile1568Thr
ENST00000389652.11:c.4886T>C	ENSP00000374303.8:p.Ile1629Thr
ENST00000389652.9:c.4348T>C
ENST00000424120.5:c.4850T>C	ENSP00000403465.1:p.Ile1617Thr
ENST00000503292.5:c.4850T>C	ENSP00000421809.1:p.Ile1617Thr
ENST00000503292.6:c.4850T>C	ENSP00000421809.1:p.Ile1617Thr
ENST00000506643.4:c.3119T>C
ENST00000506643.5:c.4703T>C	ENSP00000422931.2:p.Ile1568Thr
ENST00000514039.6:c.956T>C	ENSP00000488534.2:p.Ile319Thr
ENST00000634028.1:c.4656T>C	ENSP00000488669.1:n.4656T>C
ENST00000634028.2:c.4644T>C	ENSP00000488669.2:n.4644T>C
ENST00000650860.2:c.*2347T>C	ENSP00000498775.1:n.*2347T>C
ENST00000674945.1:c.4526T>C	ENSP00000502333.1:p.Ile1509Thr
XM_005248177.1:c.4850T>C	XP_005248234.1:p.Ile1617Thr
XM_011513869.1:c.4868T>C	XP_011512171.1:p.Ile1623Thr
XM_011513870.1:c.4868T>C	XP_011512172.1:p.Ile1623Thr
XM_011513871.1:c.4721T>C	XP_011512173.1:p.Ile1574Thr
XM_017008482.1:c.4703T>C	XP_016863971.1:p.Ile1568Thr