Canonical Allele Identifier: CA92513467

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15563346A>C , CM000666.2:g.15563346A>C	GRCh38
NC_000004.11:g.15564969A>C , CM000666.1:g.15564969A>C	GRCh37
NC_000004.10:g.15174067A>C	NCBI36
NG_013035.1:g.98481A>C , LRG_697:g.98481A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3015-9A>C MANE Select	NP_001365544.1:n.3015-9A>C
ENST00000424120.6:c.3015-9A>C MANE Select	ENSP00000403465.1:n.3015-9A>C
NM_001080522.2:c.3015-9A>C , LRG_697t1:c.3015-9A>C	NP_001073991.2:n.3015-9A>C
NM_001378617.1:c.2868-9A>C	NP_001365546.1:n.2868-9A>C
ENST00000389652.11:c.3030-9A>C	ENSP00000374303.8:n.3030-9A>C
ENST00000389652.9:c.2492-9A>C
ENST00000424120.5:c.3015-9A>C	ENSP00000403465.1:n.3015-9A>C
ENST00000503292.5:c.3015-9A>C	ENSP00000421809.1:n.3015-9A>C
ENST00000503292.6:c.3015-9A>C	ENSP00000421809.1:n.3015-9A>C
ENST00000506643.4:c.1343-9A>C
ENST00000506643.5:c.2868-9A>C	ENSP00000422931.2:n.2868-9A>C
ENST00000634028.1:c.2998-9A>C	ENSP00000488669.1:n.2998-9A>C
ENST00000634028.2:c.2868-9A>C	ENSP00000488669.2:n.2868-9A>C
ENST00000650860.2:c.*12A>C	ENSP00000498775.1:n.*12A>C
ENST00000674945.1:c.2868-9A>C	ENSP00000502333.1:n.2868-9A>C
ENST00000675619.1:n.3817A>C
ENST00000675768.1:n.235-9A>C
ENST00000676337.1:c.*12A>C	ENSP00000501728.1:n.*12A>C
ENST00000680586.1:n.3665A>C
XM_005248177.1:c.3015-9A>C	XP_005248234.1:n.3015-9A>C
XM_011513869.1:c.3015-9A>C	XP_011512171.1:n.3015-9A>C
XM_011513870.1:c.3015-9A>C	XP_011512172.1:n.3015-9A>C
XM_011513871.1:c.2868-9A>C	XP_011512173.1:n.2868-9A>C
XM_011513872.1:c.3034A>C	XP_011512174.1:p.Asn1012His
XM_011513872.3:c.3034A>C	XP_011512174.1:p.Asn1012His
XM_011513873.1:c.*12A>C	XP_011512175.1:n.*12A>C
XM_017008482.1:c.2868-9A>C	XP_016863971.1:n.2868-9A>C
XR_001741296.1:n.3251A>C