Canonical Allele Identifier: CA2864460

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15601259T>C , CM000666.2:g.15601259T>C	GRCh38
NC_000004.11:g.15602882T>C , CM000666.1:g.15602882T>C	GRCh37
NC_000004.10:g.15211980T>C	NCBI36
NG_013035.1:g.136394T>C , LRG_697:g.136394T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4697T>C MANE Select	NP_001365544.1:p.Met1566Thr
ENST00000424120.6:c.4697T>C MANE Select	ENSP00000403465.1:p.Met1566Thr
NM_001080522.2:c.4697T>C , LRG_697t1:c.4697T>C	NP_001073991.2:p.Met1566Thr
NM_001378617.1:c.4550T>C	NP_001365546.1:p.Met1517Thr
ENST00000389652.11:c.4733T>C	ENSP00000374303.8:p.Met1578Thr
ENST00000389652.9:c.4195T>C
ENST00000424120.5:c.4697T>C	ENSP00000403465.1:p.Met1566Thr
ENST00000503292.5:c.4697T>C	ENSP00000421809.1:p.Met1566Thr
ENST00000503292.6:c.4697T>C	ENSP00000421809.1:p.Met1566Thr
ENST00000506643.4:c.2966T>C
ENST00000506643.5:c.4550T>C	ENSP00000422931.2:p.Met1517Thr
ENST00000514039.5:c.313T>C
ENST00000514039.6:c.803T>C	ENSP00000488534.2:p.Met268Thr
ENST00000634028.1:c.4503T>C	ENSP00000488669.1:n.4503T>C
ENST00000634028.2:c.4491T>C	ENSP00000488669.2:n.4491T>C
ENST00000650860.2:c.*2194T>C	ENSP00000498775.1:n.*2194T>C
ENST00000674945.1:c.4373T>C	ENSP00000502333.1:p.Met1458Thr
XM_005248177.1:c.4697T>C	XP_005248234.1:p.Met1566Thr
XM_011513869.1:c.4715T>C	XP_011512171.1:p.Met1572Thr
XM_011513870.1:c.4715T>C	XP_011512172.1:p.Met1572Thr
XM_011513871.1:c.4568T>C	XP_011512173.1:p.Met1523Thr
XM_017008482.1:c.4550T>C	XP_016863971.1:p.Met1517Thr