Canonical Allele Identifier: CA356431502

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15597742T>C (hg19) ; chr4:g.15596119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596119T>C , CM000666.2:g.15596119T>C	GRCh38
NC_000004.11:g.15597742T>C , CM000666.1:g.15597742T>C	GRCh37
NC_000004.10:g.15206840T>C	NCBI36
NG_013035.1:g.131254T>C , LRG_697:g.131254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4385T>C	ENSP00000374303.8:p.Leu1462Pro
ENST00000424120.6:c.4349T>C MANE Select	ENSP00000403465.1:p.Leu1450Pro
ENST00000503292.6:c.4349T>C	ENSP00000421809.1:p.Leu1450Pro
ENST00000506643.5:c.4202T>C	ENSP00000422931.2:p.Leu1401Pro
ENST00000513035.2:n.248T>C
ENST00000514039.6:c.544-1288T>C	ENSP00000488534.2:n.544-1288T>C
ENST00000634028.2:c.4168-25T>C	ENSP00000488669.2:n.4168-25T>C
ENST00000650860.2:c.*1846T>C	ENSP00000498775.1:n.*1846T>C
ENST00000674945.1:c.4025T>C	ENSP00000502333.1:p.Leu1342Pro
ENST00000680586.1:n.5008T>C
ENST00000389652.9:c.3847T>C
ENST00000424120.5:c.4349T>C	ENSP00000403465.1:p.Leu1450Pro
ENST00000503292.5:c.4349T>C	ENSP00000421809.1:p.Leu1450Pro
ENST00000506643.4:c.2643-25T>C
ENST00000513035.1:n.248T>C
ENST00000514039.5:c.54-1288T>C
ENST00000634028.1:c.4155T>C	ENSP00000488669.1:n.4155T>C
NM_001080522.2:c.4349T>C , LRG_697t1:c.4349T>C	NP_001073991.2:p.Leu1450Pro
XM_005248177.1:c.4349T>C	XP_005248234.1:p.Leu1450Pro
XM_011513869.1:c.4367T>C	XP_011512171.1:p.Leu1456Pro
XM_011513870.1:c.4367T>C	XP_011512172.1:p.Leu1456Pro
XM_011513871.1:c.4220T>C	XP_011512173.1:p.Leu1407Pro
XM_017008482.1:c.4202T>C	XP_016863971.1:p.Leu1401Pro
NM_001378615.1:c.4349T>C MANE Select	NP_001365544.1:p.Leu1450Pro
NM_001378617.1:c.4202T>C	NP_001365546.1:p.Leu1401Pro