Canonical Allele Identifier: CA2682677591

Gene: CCM2

Linked Data

• gnomAD v4: 7-45068366-C-CGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068368_45068369insAGG , CM000669.2:g.45068368_45068369insAGG	GRCh38
NC_000007.13:g.45107967_45107968insAGG , CM000669.1:g.45107967_45107968insAGG	GRCh37
NC_000007.12:g.45074492_45074493insAGG	NCBI36
NG_016295.1:g.73181_73182insAGG , LRG_664:g.73181_73182insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-75_473-74insAGG MANE Select	ENSP00000258781.7:n.473-75_473-74insAGG
ENST00000648329.1:c.473-75_473-74insAGG	ENSP00000496916.1:n.473-75_473-74insAGG
ENST00000258781.10:c.473-75_473-74insAGG	ENSP00000258781.6:n.473-75_473-74insAGG
ENST00000381112.7:c.536-75_536-74insAGG	ENSP00000370503.3:n.536-75_536-74insAGG
ENST00000461377.5:n.826-75_826-74insAGG
ENST00000472223.5:n.540-75_540-74insAGG
ENST00000474617.1:c.454+3722_454+3723insAGG	ENSP00000419474.1:n.454+3722_454+3723insAGG
ENST00000475551.5:c.455-75_455-74insAGG	ENSP00000417180.1:n.455-75_455-74insAGG
ENST00000477605.1:n.733_734insAGG
ENST00000478582.5:n.684-1458_684-1457insAGG
ENST00000480658.5:n.301-75_301-74insAGG
ENST00000481194.1:n.45-1458_45-1457insAGG
ENST00000482714.5:n.395-75_395-74insAGG
ENST00000488727.5:c.473-75_473-74insAGG	ENSP00000417251.1:n.473-75_473-74insAGG
ENST00000492883.5:n.485-1458_485-1457insAGG
ENST00000541586.5:c.299-75_299-74insAGG	ENSP00000444725.1:n.299-75_299-74insAGG
ENST00000544363.5:c.472+3722_472+3723insAGG	ENSP00000438035.1:n.472+3722_472+3723insAGG
NM_001029835.2:c.536-75_536-74insAGG , LRG_664t1:c.536-75_536-74insAGG	NP_001025006.1:n.536-75_536-74insAGG
NM_001167934.1:c.299-75_299-74insAGG	NP_001161406.1:n.299-75_299-74insAGG
NM_001167935.1:c.472+3722_472+3723insAGG	NP_001161407.1:n.472+3722_472+3723insAGG
NM_031443.3:c.473-75_473-74insAGG , LRG_664t2:c.473-75_473-74insAGG	NP_113631.1:n.473-75_473-74insAGG
NR_030770.1:n.555-75_555-74insAGG
XM_006715785.2:c.362-75_362-74insAGG	XP_006715848.1:n.362-75_362-74insAGG
XM_006715786.2:c.535+3722_535+3723insAGG	XP_006715849.1:n.535+3722_535+3723insAGG
XM_011515561.1:c.536-75_536-74insAGG	XP_011513863.1:n.536-75_536-74insAGG
XM_011515562.1:c.473-75_473-74insAGG	XP_011513864.1:n.473-75_473-74insAGG
XM_011515563.1:c.362-75_362-74insAGG	XP_011513865.1:n.362-75_362-74insAGG
XM_011515564.1:c.299-75_299-74insAGG	XP_011513866.1:n.299-75_299-74insAGG
XR_428088.2:n.549-75_549-74insAGG
NM_001363458.1:c.473-75_473-74insAGG	NP_001350387.1:n.473-75_473-74insAGG
NM_001363459.1:c.299-75_299-74insAGG	NP_001350388.1:n.299-75_299-74insAGG
XM_006715785.4:c.362-75_362-74insAGG	XP_006715848.1:n.362-75_362-74insAGG
XM_006715786.3:c.535+3722_535+3723insAGG	XP_006715849.1:n.535+3722_535+3723insAGG
XM_011515561.2:c.536-75_536-74insAGG	XP_011513863.1:n.536-75_536-74insAGG
XM_011515563.3:c.362-75_362-74insAGG	XP_011513865.1:n.362-75_362-74insAGG
XM_017012671.1:c.536-75_536-74insAGG	XP_016868160.1:n.536-75_536-74insAGG
XM_017012672.2:c.362-75_362-74insAGG	XP_016868161.1:n.362-75_362-74insAGG
XM_017012673.1:c.299-75_299-74insAGG	XP_016868162.1:n.299-75_299-74insAGG
XR_428088.3:n.569-75_569-74insAGG
NM_001363458.2:c.473-75_473-74insAGG	NP_001350387.1:n.473-75_473-74insAGG
NM_001363459.2:c.299-75_299-74insAGG	NP_001350388.1:n.299-75_299-74insAGG
NM_031443.4:c.473-75_473-74insAGG MANE Select	NP_113631.1:n.473-75_473-74insAGG
NR_030770.2:n.555-75_555-74insAGG
NM_001167934.2:c.299-75_299-74insAGG	NP_001161406.1:n.299-75_299-74insAGG
NM_001167935.2:c.472+3722_472+3723insAGG	NP_001161407.1:n.472+3722_472+3723insAGG