Canonical Allele Identifier: CA356420212

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15569352T>C , CM000666.2:g.15569352T>C	GRCh38
NC_000004.11:g.15570975T>C , CM000666.1:g.15570975T>C	GRCh37
NC_000004.10:g.15180073T>C	NCBI36
NG_013035.1:g.104487T>C , LRG_697:g.104487T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3458T>C MANE Select	NP_001365544.1:p.Ile1153Thr
ENST00000424120.6:c.3458T>C MANE Select	ENSP00000403465.1:p.Ile1153Thr
NM_001080522.2:c.3458T>C , LRG_697t1:c.3458T>C	NP_001073991.2:p.Ile1153Thr
NM_001378617.1:c.3311T>C	NP_001365546.1:p.Ile1104Thr
ENST00000389652.11:c.3473T>C	ENSP00000374303.8:p.Ile1158Thr
ENST00000389652.9:c.2935T>C
ENST00000424120.5:c.3458T>C	ENSP00000403465.1:p.Ile1153Thr
ENST00000503292.5:c.3458T>C	ENSP00000421809.1:p.Ile1153Thr
ENST00000503292.6:c.3458T>C	ENSP00000421809.1:p.Ile1153Thr
ENST00000506643.4:c.1786T>C
ENST00000506643.5:c.3311T>C	ENSP00000422931.2:p.Ile1104Thr
ENST00000634028.1:c.3441T>C	ENSP00000488669.1:n.3441T>C
ENST00000634028.2:c.3311T>C	ENSP00000488669.2:p.Ile1104Thr
ENST00000650860.2:c.*464T>C	ENSP00000498775.1:n.*464T>C
ENST00000674945.1:c.3311T>C	ENSP00000502333.1:p.Ile1104Thr
ENST00000675619.1:n.4269T>C
ENST00000675768.1:n.678T>C
ENST00000676337.1:c.*464T>C	ENSP00000501728.1:n.*464T>C
ENST00000680586.1:n.4117T>C
XM_005248177.1:c.3458T>C	XP_005248234.1:p.Ile1153Thr
XM_011513869.1:c.3458T>C	XP_011512171.1:p.Ile1153Thr
XM_011513870.1:c.3458T>C	XP_011512172.1:p.Ile1153Thr
XM_011513871.1:c.3311T>C	XP_011512173.1:p.Ile1104Thr
XM_017008482.1:c.3311T>C	XP_016863971.1:p.Ile1104Thr
XR_001741296.1:n.3703T>C