Canonical Allele Identifier: CA891862758

Gene: CCM2

Linked Data

• ClinVar Variation Id: 590649
• ClinVar RCV Id: RCV000721772 ; RCV001849084
• dbSNP Id: rs1562882045
• gnomAD v4: 7-45038385-CCAGA-C
• MyVariant Identifiers: chr7:g.45077990_45077993del (hg19) ; chr7:g.45038391_45038394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038391_45038394del , CM000669.2:g.45038391_45038394del	GRCh38
NC_000007.13:g.45077990_45077993del , CM000669.1:g.45077990_45077993del	GRCh37
NC_000007.12:g.45044515_45044518del	NCBI36
NG_016295.1:g.43204_43207del , LRG_664:g.43204_43207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.169_172del MANE Select	ENSP00000258781.7:p.Arg57CysfsTer2
ENST00000648329.1:c.169_172del	ENSP00000496916.1:p.Arg57CysfsTer2
ENST00000258781.10:c.169_172del	ENSP00000258781.6:p.Arg57CysfsTer2
ENST00000381112.7:c.232_235del	ENSP00000370503.3:p.Arg78CysfsTer2
ENST00000461377.5:n.522_525del
ENST00000472223.5:n.236_239del
ENST00000474617.1:c.151_154del	ENSP00000419474.1:p.Arg51CysfsTer2
ENST00000475551.5:c.151_154del	ENSP00000417180.1:p.Arg51CysfsTer2
ENST00000476594.1:n.131_134del
ENST00000478169.5:n.391_394del
ENST00000478582.5:n.380_383del
ENST00000480658.5:n.265_268del
ENST00000482714.5:n.126+10594_126+10597del
ENST00000488727.5:c.169_172del	ENSP00000417251.1:p.Arg57CysfsTer2
ENST00000492883.5:n.265_268del
ENST00000541586.5:c.31-25527_31-25524del	ENSP00000444725.1:n.31-25527_31-25524del
ENST00000544363.5:c.169_172del	ENSP00000438035.1:p.Arg57CysfsTer2
NM_001029835.2:c.232_235del , LRG_664t1:c.232_235del	NP_001025006.1:p.Arg78CysfsTer2
NM_001167934.1:c.31-25527_31-25524del	NP_001161406.1:n.31-25527_31-25524del
NM_001167935.1:c.169_172del	NP_001161407.1:p.Arg57CysfsTer2
NM_031443.3:c.169_172del , LRG_664t2:c.169_172del	NP_113631.1:p.Arg57CysfsTer2
NR_030770.1:n.251_254del
XM_006715785.2:c.93+10594_93+10597del	XP_006715848.1:n.93+10594_93+10597del
XM_006715786.2:c.232_235del	XP_006715849.1:p.Arg78CysfsTer2
XM_011515561.1:c.232_235del	XP_011513863.1:p.Arg78CysfsTer2
XM_011515562.1:c.169_172del	XP_011513864.1:p.Arg57CysfsTer2
XM_011515563.1:c.93+10594_93+10597del	XP_011513865.1:n.93+10594_93+10597del
XM_011515564.1:c.31-25527_31-25524del	XP_011513866.1:n.31-25527_31-25524del
XR_428088.2:n.245_248del
NM_001363458.1:c.169_172del	NP_001350387.1:p.Arg57CysfsTer2
NM_001363459.1:c.31-25527_31-25524del	NP_001350388.1:n.31-25527_31-25524del
XM_006715785.4:c.93+10594_93+10597del	XP_006715848.1:n.93+10594_93+10597del
XM_006715786.3:c.232_235del	XP_006715849.1:p.Arg78CysfsTer2
XM_011515561.2:c.232_235del	XP_011513863.1:p.Arg78CysfsTer2
XM_011515563.3:c.93+10594_93+10597del	XP_011513865.1:n.93+10594_93+10597del
XM_017012671.1:c.232_235del	XP_016868160.1:p.Arg78CysfsTer2
XM_017012672.2:c.93+10594_93+10597del	XP_016868161.1:n.93+10594_93+10597del
XM_017012673.1:c.31-25527_31-25524del	XP_016868162.1:n.31-25527_31-25524del
XR_428088.3:n.265_268del
NM_001363458.2:c.169_172del	NP_001350387.1:p.Arg57CysfsTer2
NM_001363459.2:c.31-25527_31-25524del	NP_001350388.1:n.31-25527_31-25524del
NM_031443.4:c.169_172del MANE Select	NP_113631.1:p.Arg57CysfsTer2
NR_030770.2:n.251_254del
NM_001167934.2:c.31-25527_31-25524del	NP_001161406.1:n.31-25527_31-25524del
NM_001167935.2:c.169_172del	NP_001161407.1:p.Arg57CysfsTer2