Canonical Allele Identifier: CA838862864

Gene: CCM2

Linked Data

• dbSNP Id: rs1406106506
• gnomAD v3: 7-45068601-TACTC-T
• gnomAD v4: 7-45068601-TACTC-T
• MyVariant Identifiers: chr7:g.45108201_45108204del (hg19) ; chr7:g.45068602_45068605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068603_45068606del , CM000669.2:g.45068603_45068606del	GRCh38
NC_000007.13:g.45108202_45108205del , CM000669.1:g.45108202_45108205del	GRCh37
NC_000007.12:g.45074727_45074730del	NCBI36
NG_016295.1:g.73416_73419del , LRG_664:g.73416_73419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.609+24_609+27del MANE Select	ENSP00000258781.7:n.609+24_609+27del
ENST00000648329.1:c.609+24_609+27del	ENSP00000496916.1:n.609+24_609+27del
ENST00000258781.10:c.609+24_609+27del	ENSP00000258781.6:n.609+24_609+27del
ENST00000381112.7:c.672+24_672+27del	ENSP00000370503.3:n.672+24_672+27del
ENST00000461377.5:n.962+24_962+27del
ENST00000472223.5:n.676+24_676+27del
ENST00000474617.1:c.454+3957_454+3960del	ENSP00000419474.1:n.454+3957_454+3960del
ENST00000475551.5:c.591+24_591+27del	ENSP00000417180.1:n.591+24_591+27del
ENST00000477605.1:n.944+24_944+27del
ENST00000478582.5:n.684-1223_684-1220del
ENST00000480382.1:c.86+24_86+27del
ENST00000480658.5:n.437+24_437+27del
ENST00000481194.1:n.45-1223_45-1220del
ENST00000482714.5:n.531+24_531+27del
ENST00000488727.5:c.609+24_609+27del	ENSP00000417251.1:n.609+24_609+27del
ENST00000492883.5:n.485-1223_485-1220del
ENST00000541586.5:c.435+24_435+27del	ENSP00000444725.1:n.435+24_435+27del
ENST00000544363.5:c.472+3957_472+3960del	ENSP00000438035.1:n.472+3957_472+3960del
NM_001029835.2:c.672+24_672+27del , LRG_664t1:c.672+24_672+27del	NP_001025006.1:n.672+24_672+27del
NM_001167934.1:c.435+24_435+27del	NP_001161406.1:n.435+24_435+27del
NM_001167935.1:c.472+3957_472+3960del	NP_001161407.1:n.472+3957_472+3960del
NM_031443.3:c.609+24_609+27del , LRG_664t2:c.609+24_609+27del	NP_113631.1:n.609+24_609+27del
NR_030770.1:n.691+24_691+27del
XM_006715785.2:c.498+24_498+27del	XP_006715848.1:n.498+24_498+27del
XM_006715786.2:c.535+3957_535+3960del	XP_006715849.1:n.535+3957_535+3960del
XM_011515561.1:c.672+24_672+27del	XP_011513863.1:n.672+24_672+27del
XM_011515562.1:c.609+24_609+27del	XP_011513864.1:n.609+24_609+27del
XM_011515563.1:c.498+24_498+27del	XP_011513865.1:n.498+24_498+27del
XM_011515564.1:c.435+24_435+27del	XP_011513866.1:n.435+24_435+27del
XR_428088.2:n.685+24_685+27del
NM_001363458.1:c.609+24_609+27del	NP_001350387.1:n.609+24_609+27del
NM_001363459.1:c.435+24_435+27del	NP_001350388.1:n.435+24_435+27del
XM_006715785.4:c.498+24_498+27del	XP_006715848.1:n.498+24_498+27del
XM_006715786.3:c.535+3957_535+3960del	XP_006715849.1:n.535+3957_535+3960del
XM_011515561.2:c.672+24_672+27del	XP_011513863.1:n.672+24_672+27del
XM_011515563.3:c.498+24_498+27del	XP_011513865.1:n.498+24_498+27del
XM_017012671.1:c.672+24_672+27del	XP_016868160.1:n.672+24_672+27del
XM_017012672.2:c.498+24_498+27del	XP_016868161.1:n.498+24_498+27del
XM_017012673.1:c.435+24_435+27del	XP_016868162.1:n.435+24_435+27del
XR_428088.3:n.705+24_705+27del
NM_001363458.2:c.609+24_609+27del	NP_001350387.1:n.609+24_609+27del
NM_001363459.2:c.435+24_435+27del	NP_001350388.1:n.435+24_435+27del
NM_031443.4:c.609+24_609+27del MANE Select	NP_113631.1:n.609+24_609+27del
NR_030770.2:n.691+24_691+27del
NM_001167934.2:c.435+24_435+27del	NP_001161406.1:n.435+24_435+27del
NM_001167935.2:c.472+3957_472+3960del	NP_001161407.1:n.472+3957_472+3960del