Canonical Allele Identifier: CA356429645

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15591212A>C (hg19) ; chr4:g.15589589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589589A>C , CM000666.2:g.15589589A>C	GRCh38
NC_000004.11:g.15591212A>C , CM000666.1:g.15591212A>C	GRCh37
NC_000004.10:g.15200310A>C	NCBI36
NG_013035.1:g.124724A>C , LRG_697:g.124724A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4260A>C	ENSP00000374303.8:p.Leu1420Phe
ENST00000424120.6:c.4224A>C MANE Select	ENSP00000403465.1:p.Leu1408Phe
ENST00000503292.6:c.4224A>C	ENSP00000421809.1:p.Leu1408Phe
ENST00000506643.5:c.4077A>C	ENSP00000422931.2:p.Leu1359Phe
ENST00000514039.6:c.453A>C	ENSP00000488534.2:p.Leu151Phe
ENST00000634028.2:c.4077A>C	ENSP00000488669.2:p.Leu1359Phe
ENST00000650860.2:c.*1721A>C	ENSP00000498775.1:n.*1721A>C
ENST00000674945.1:c.3900A>C	ENSP00000502333.1:p.Leu1300Phe
ENST00000675768.1:n.1444A>C
ENST00000680586.1:n.4883A>C
ENST00000389652.9:c.3722A>C
ENST00000424120.5:c.4224A>C	ENSP00000403465.1:p.Leu1408Phe
ENST00000503292.5:c.4224A>C	ENSP00000421809.1:p.Leu1408Phe
ENST00000506643.4:c.2552A>C
ENST00000634028.1:c.4030A>C	ENSP00000488669.1:n.4030A>C
NM_001080522.2:c.4224A>C , LRG_697t1:c.4224A>C	NP_001073991.2:p.Leu1408Phe
XM_005248177.1:c.4224A>C	XP_005248234.1:p.Leu1408Phe
XM_011513869.1:c.4242A>C	XP_011512171.1:p.Leu1414Phe
XM_011513870.1:c.4242A>C	XP_011512172.1:p.Leu1414Phe
XM_011513871.1:c.4095A>C	XP_011512173.1:p.Leu1365Phe
XM_017008482.1:c.4077A>C	XP_016863971.1:p.Leu1359Phe
NM_001378615.1:c.4224A>C MANE Select	NP_001365544.1:p.Leu1408Phe
NM_001378617.1:c.4077A>C	NP_001365546.1:p.Leu1359Phe