Canonical Allele Identifier: CA2573137612

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1610337
• ClinVar RCV Id: RCV002155455
• dbSNP Id: rs2109070538
• gnomAD v4: 4-15567662-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567662G>C , CM000666.2:g.15567662G>C	GRCh38
NC_000004.11:g.15569285G>C , CM000666.1:g.15569285G>C	GRCh37
NC_000004.10:g.15178383G>C	NCBI36
NG_013035.1:g.102797G>C , LRG_697:g.102797G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3304-15G>C	ENSP00000374303.8:n.3304-15G>C
ENST00000424120.6:c.3289-15G>C MANE Select	ENSP00000403465.1:n.3289-15G>C
ENST00000503292.6:c.3289-15G>C	ENSP00000421809.1:n.3289-15G>C
ENST00000506643.5:c.3142-15G>C	ENSP00000422931.2:n.3142-15G>C
ENST00000634028.2:c.3142-15G>C	ENSP00000488669.2:n.3142-15G>C
ENST00000650860.2:c.*295-15G>C	ENSP00000498775.1:n.*295-15G>C
ENST00000674945.1:c.3142-15G>C	ENSP00000502333.1:n.3142-15G>C
ENST00000675619.1:n.4100-15G>C
ENST00000675768.1:n.509-15G>C
ENST00000676337.1:c.*295-15G>C	ENSP00000501728.1:n.*295-15G>C
ENST00000680586.1:n.3948-15G>C
ENST00000389652.9:c.2766-15G>C
ENST00000424120.5:c.3289-15G>C	ENSP00000403465.1:n.3289-15G>C
ENST00000503292.5:c.3289-15G>C	ENSP00000421809.1:n.3289-15G>C
ENST00000506643.4:c.1617-15G>C
ENST00000634028.1:c.3272-15G>C	ENSP00000488669.1:n.3272-15G>C
NM_001080522.2:c.3289-15G>C , LRG_697t1:c.3289-15G>C	NP_001073991.2:n.3289-15G>C
XM_005248177.1:c.3289-15G>C	XP_005248234.1:n.3289-15G>C
XM_011513869.1:c.3289-15G>C	XP_011512171.1:n.3289-15G>C
XM_011513870.1:c.3289-15G>C	XP_011512172.1:n.3289-15G>C
XM_011513871.1:c.3142-15G>C	XP_011512173.1:n.3142-15G>C
XM_017008482.1:c.3142-15G>C	XP_016863971.1:n.3142-15G>C
XR_001741296.1:n.3534-15G>C
NM_001378615.1:c.3289-15G>C MANE Select	NP_001365544.1:n.3289-15G>C
NM_001378617.1:c.3142-15G>C	NP_001365546.1:n.3142-15G>C