Canonical Allele Identifier: CA658657671

Gene: CCM2

Linked Data

• ClinVar Variation Id: 468336
• ClinVar RCV Id: RCV000526565
• dbSNP Id: rs1554365511
• MyVariant Identifiers: chr7:g.45077863_45077864insATTTAAACGAGTATTTAAA (hg19) ; chr7:g.45038264_45038265insATTTAAACGAGTATTTAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038264_45038265insATTTAAACGAGTATTTAAA , CM000669.2:g.45038264_45038265insATTTAAACGAGTATTTAAA	GRCh38
NC_000007.13:g.45077863_45077864insATTTAAACGAGTATTTAAA , CM000669.1:g.45077863_45077864insATTTAAACGAGTATTTAAA	GRCh37
NC_000007.12:g.45044388_45044389insATTTAAACGAGTATTTAAA	NCBI36
NG_016295.1:g.43077_43078insATTTAAACGAGTATTTAAA , LRG_664:g.43077_43078insATTTAAACGAGTATTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.42_43insATTTAAACGAGTATTTAAA MANE Select	ENSP00000258781.7:p.Ser15IlefsTer2
ENST00000648329.1:c.42_43insATTTAAACGAGTATTTAAA	ENSP00000496916.1:p.Ser15IlefsTer2
ENST00000258781.10:c.42_43insATTTAAACGAGTATTTAAA	ENSP00000258781.6:p.Ser15IlefsTer2
ENST00000381112.7:c.105_106insATTTAAACGAGTATTTAAA	ENSP00000370503.3:p.Ser36IlefsTer2
ENST00000461377.5:n.395_396insATTTAAACGAGTATTTAAA
ENST00000472223.5:n.109_110insATTTAAACGAGTATTTAAA
ENST00000474617.1:c.24_25insATTTAAACGAGTATTTAAA	ENSP00000419474.1:p.Ser9IlefsTer2
ENST00000475551.5:c.24_25insATTTAAACGAGTATTTAAA	ENSP00000417180.1:p.Ser9IlefsTer2
ENST00000476594.1:n.4_5insATTTAAACGAGTATTTAAA
ENST00000478169.5:n.264_265insATTTAAACGAGTATTTAAA
ENST00000478582.5:n.253_254insATTTAAACGAGTATTTAAA
ENST00000480658.5:n.138_139insATTTAAACGAGTATTTAAA
ENST00000482714.5:n.126+10467_126+10468insATTTAAACGAGTATTTAAA
ENST00000488727.5:c.42_43insATTTAAACGAGTATTTAAA	ENSP00000417251.1:p.Ser15IlefsTer2
ENST00000492883.5:n.138_139insATTTAAACGAGTATTTAAA
ENST00000541586.5:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	ENSP00000444725.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
ENST00000544363.5:c.42_43insATTTAAACGAGTATTTAAA	ENSP00000438035.1:p.Ser15IlefsTer2
NM_001029835.2:c.105_106insATTTAAACGAGTATTTAAA , LRG_664t1:c.105_106insATTTAAACGAGTATTTAAA	NP_001025006.1:p.Ser36IlefsTer2
NM_001167934.1:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	NP_001161406.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
NM_001167935.1:c.42_43insATTTAAACGAGTATTTAAA	NP_001161407.1:p.Ser15IlefsTer2
NM_031443.3:c.42_43insATTTAAACGAGTATTTAAA , LRG_664t2:c.42_43insATTTAAACGAGTATTTAAA	NP_113631.1:p.Ser15IlefsTer2
NR_030770.1:n.124_125insATTTAAACGAGTATTTAAA
XM_006715785.2:c.93+10467_93+10468insATTTAAACGAGTATTTAAA	XP_006715848.1:n.93+10467_93+10468insATTTAAACGAGTATTTAAA
XM_006715786.2:c.105_106insATTTAAACGAGTATTTAAA	XP_006715849.1:p.Ser36IlefsTer2
XM_011515561.1:c.105_106insATTTAAACGAGTATTTAAA	XP_011513863.1:p.Ser36IlefsTer2
XM_011515562.1:c.42_43insATTTAAACGAGTATTTAAA	XP_011513864.1:p.Ser15IlefsTer2
XM_011515563.1:c.93+10467_93+10468insATTTAAACGAGTATTTAAA	XP_011513865.1:n.93+10467_93+10468insATTTAAACGAGTATTTAAA
XM_011515564.1:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	XP_011513866.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
XR_428088.2:n.118_119insATTTAAACGAGTATTTAAA
NM_001363458.1:c.42_43insATTTAAACGAGTATTTAAA	NP_001350387.1:p.Ser15IlefsTer2
NM_001363459.1:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	NP_001350388.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
XM_006715785.4:c.93+10467_93+10468insATTTAAACGAGTATTTAAA	XP_006715848.1:n.93+10467_93+10468insATTTAAACGAGTATTTAAA
XM_006715786.3:c.105_106insATTTAAACGAGTATTTAAA	XP_006715849.1:p.Ser36IlefsTer2
XM_011515561.2:c.105_106insATTTAAACGAGTATTTAAA	XP_011513863.1:p.Ser36IlefsTer2
XM_011515563.3:c.93+10467_93+10468insATTTAAACGAGTATTTAAA	XP_011513865.1:n.93+10467_93+10468insATTTAAACGAGTATTTAAA
XM_017012671.1:c.105_106insATTTAAACGAGTATTTAAA	XP_016868160.1:p.Ser36IlefsTer2
XM_017012672.2:c.93+10467_93+10468insATTTAAACGAGTATTTAAA	XP_016868161.1:n.93+10467_93+10468insATTTAAACGAGTATTTAAA
XM_017012673.1:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	XP_016868162.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
XR_428088.3:n.138_139insATTTAAACGAGTATTTAAA
NM_001363458.2:c.42_43insATTTAAACGAGTATTTAAA	NP_001350387.1:p.Ser15IlefsTer2
NM_001363459.2:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	NP_001350388.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
NM_031443.4:c.42_43insATTTAAACGAGTATTTAAA MANE Select	NP_113631.1:p.Ser15IlefsTer2
NR_030770.2:n.124_125insATTTAAACGAGTATTTAAA
NM_001167934.2:c.31-25654_31-25653insATTTAAACGAGTATTTAAA	NP_001161406.1:n.31-25654_31-25653insATTTAAACGAGTATTTAAA
NM_001167935.2:c.42_43insATTTAAACGAGTATTTAAA	NP_001161407.1:p.Ser15IlefsTer2