Canonical Allele Identifier: CA1704022602

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000307_45000328delinsCGGGCCGCGGGAGCCGCACGCG , CM000669.2:g.45000307_45000328delinsCGGGCCGCGGGAGCCGCACGCG	GRCh38
NC_000007.13:g.45039906_45039927delinsCGGGCCGCGGGAGCCGCACGCG , CM000669.1:g.45039906_45039927delinsCGGGCCGCGGGAGCCGCACGCG	GRCh37
NC_000007.12:g.45006431_45006452delinsCGGGCCGCGGGAGCCGCACGCG	NCBI36
NG_016295.1:g.5120_5141delinsCGGGCCGCGGGAGCCGCACGCG , LRG_664:g.5120_5141delinsCGGGCCGCGGGAGCCGCACGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG MANE Select	ENSP00000258781.7:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000648329.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	ENSP00000496916.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000258781.10:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	ENSP00000258781.6:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000461377.5:n.383+450_383+471delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000478582.5:n.119_140delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000488727.5:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	ENSP00000417251.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000541586.5:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	ENSP00000444725.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
ENST00000544363.5:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	ENSP00000438035.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001167934.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001161406.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001167935.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001161407.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_031443.3:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG , LRG_664t2:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_113631.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NR_030770.1:n.112+450_112+471delinsCGGGCCGCGGGAGCCGCACGCG
XM_011515562.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	XP_011513864.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
XM_011515564.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	XP_011513866.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001363458.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001350387.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001363459.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001350388.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
XM_017012673.1:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	XP_016868162.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001363458.2:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001350387.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001363459.2:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001350388.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_031443.4:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG MANE Select	NP_113631.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NR_030770.2:n.112+450_112+471delinsCGGGCCGCGGGAGCCGCACGCG
NM_001167934.2:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001161406.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG
NM_001167935.2:c.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG	NP_001161407.1:n.-27_-6delinsCGGGCCGCGGGAGCCGCACGCG