Canonical Allele Identifier: CA356418538

Gene: CC2D2A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567681T>G , CM000666.2:g.15567681T>G	GRCh38
NC_000004.11:g.15569304T>G , CM000666.1:g.15569304T>G	GRCh37
NC_000004.10:g.15178402T>G	NCBI36
NG_013035.1:g.102816T>G , LRG_697:g.102816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3308T>G	ENSP00000374303.8:p.Leu1103Ter
ENST00000424120.6:c.3293T>G MANE Select	ENSP00000403465.1:p.Leu1098Ter
ENST00000503292.6:c.3293T>G	ENSP00000421809.1:p.Leu1098Ter
ENST00000506643.5:c.3146T>G	ENSP00000422931.2:p.Leu1049Ter
ENST00000634028.2:c.3146T>G	ENSP00000488669.2:p.Leu1049Ter
ENST00000650860.2:c.*299T>G	ENSP00000498775.1:n.*299T>G
ENST00000674945.1:c.3146T>G	ENSP00000502333.1:p.Leu1049Ter
ENST00000675619.1:n.4104T>G
ENST00000675768.1:n.513T>G
ENST00000676337.1:c.*299T>G	ENSP00000501728.1:n.*299T>G
ENST00000680586.1:n.3952T>G
ENST00000389652.9:c.2770T>G
ENST00000424120.5:c.3293T>G	ENSP00000403465.1:p.Leu1098Ter
ENST00000503292.5:c.3293T>G	ENSP00000421809.1:p.Leu1098Ter
ENST00000506643.4:c.1621T>G
ENST00000634028.1:c.3276T>G	ENSP00000488669.1:n.3276T>G
NM_001080522.2:c.3293T>G , LRG_697t1:c.3293T>G	NP_001073991.2:p.Leu1098Ter
XM_005248177.1:c.3293T>G	XP_005248234.1:p.Leu1098Ter
XM_011513869.1:c.3293T>G	XP_011512171.1:p.Leu1098Ter
XM_011513870.1:c.3293T>G	XP_011512172.1:p.Leu1098Ter
XM_011513871.1:c.3146T>G	XP_011512173.1:p.Leu1049Ter
XM_017008482.1:c.3146T>G	XP_016863971.1:p.Leu1049Ter
XR_001741296.1:n.3538T>G
NM_001378615.1:c.3293T>G MANE Select	NP_001365544.1:p.Leu1098Ter
NM_001378617.1:c.3146T>G	NP_001365546.1:p.Leu1049Ter