Canonical Allele Identifier: CA2682672619

Gene: CCM2

Linked Data

• gnomAD v4: 7-45000311-C-CAGGAAGCGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000311_45000312insAGGAAGCGCCG , CM000669.2:g.45000311_45000312insAGGAAGCGCCG	GRCh38
NC_000007.13:g.45039910_45039911insAGGAAGCGCCG , CM000669.1:g.45039910_45039911insAGGAAGCGCCG	GRCh37
NC_000007.12:g.45006435_45006436insAGGAAGCGCCG	NCBI36
NG_016295.1:g.5124_5125insAGGAAGCGCCG , LRG_664:g.5124_5125insAGGAAGCGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-23_-22insAGGAAGCGCCG MANE Select	ENSP00000258781.7:n.-23_-22insAGGAAGCGCCG
ENST00000648329.1:c.-23_-22insAGGAAGCGCCG	ENSP00000496916.1:n.-23_-22insAGGAAGCGCCG
ENST00000258781.10:c.-23_-22insAGGAAGCGCCG	ENSP00000258781.6:n.-23_-22insAGGAAGCGCCG
ENST00000461377.5:n.383+454_383+455insAGGAAGCGCCG
ENST00000478582.5:n.123_124insAGGAAGCGCCG
ENST00000488727.5:c.-23_-22insAGGAAGCGCCG	ENSP00000417251.1:n.-23_-22insAGGAAGCGCCG
ENST00000541586.5:c.-23_-22insAGGAAGCGCCG	ENSP00000444725.1:n.-23_-22insAGGAAGCGCCG
ENST00000544363.5:c.-23_-22insAGGAAGCGCCG	ENSP00000438035.1:n.-23_-22insAGGAAGCGCCG
NM_001167934.1:c.-23_-22insAGGAAGCGCCG	NP_001161406.1:n.-23_-22insAGGAAGCGCCG
NM_001167935.1:c.-23_-22insAGGAAGCGCCG	NP_001161407.1:n.-23_-22insAGGAAGCGCCG
NM_031443.3:c.-23_-22insAGGAAGCGCCG , LRG_664t2:c.-23_-22insAGGAAGCGCCG	NP_113631.1:n.-23_-22insAGGAAGCGCCG
NR_030770.1:n.112+454_112+455insAGGAAGCGCCG
XM_011515562.1:c.-23_-22insAGGAAGCGCCG	XP_011513864.1:n.-23_-22insAGGAAGCGCCG
XM_011515564.1:c.-23_-22insAGGAAGCGCCG	XP_011513866.1:n.-23_-22insAGGAAGCGCCG
NM_001363458.1:c.-23_-22insAGGAAGCGCCG	NP_001350387.1:n.-23_-22insAGGAAGCGCCG
NM_001363459.1:c.-23_-22insAGGAAGCGCCG	NP_001350388.1:n.-23_-22insAGGAAGCGCCG
XM_017012673.1:c.-23_-22insAGGAAGCGCCG	XP_016868162.1:n.-23_-22insAGGAAGCGCCG
NM_001363458.2:c.-23_-22insAGGAAGCGCCG	NP_001350387.1:n.-23_-22insAGGAAGCGCCG
NM_001363459.2:c.-23_-22insAGGAAGCGCCG	NP_001350388.1:n.-23_-22insAGGAAGCGCCG
NM_031443.4:c.-23_-22insAGGAAGCGCCG MANE Select	NP_113631.1:n.-23_-22insAGGAAGCGCCG
NR_030770.2:n.112+454_112+455insAGGAAGCGCCG
NM_001167934.2:c.-23_-22insAGGAAGCGCCG	NP_001161406.1:n.-23_-22insAGGAAGCGCCG
NM_001167935.2:c.-23_-22insAGGAAGCGCCG	NP_001161407.1:n.-23_-22insAGGAAGCGCCG