Canonical Allele Identifier: CA2682674834

Gene: CCM2

Linked Data

• gnomAD v4: 7-45038280-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038282_45038283del , CM000669.2:g.45038282_45038283del	GRCh38
NC_000007.13:g.45077881_45077882del , CM000669.1:g.45077881_45077882del	GRCh37
NC_000007.12:g.45044406_45044407del	NCBI36
NG_016295.1:g.43095_43096del , LRG_664:g.43095_43096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.60_61del MANE Select	ENSP00000258781.7:p.Phe21ProfsTer4
ENST00000648329.1:c.60_61del	ENSP00000496916.1:p.Phe21ProfsTer4
ENST00000258781.10:c.60_61del	ENSP00000258781.6:p.Phe21ProfsTer4
ENST00000381112.7:c.123_124del	ENSP00000370503.3:p.Phe42ProfsTer4
ENST00000461377.5:n.413_414del
ENST00000472223.5:n.127_128del
ENST00000474617.1:c.42_43del	ENSP00000419474.1:p.Phe15ProfsTer4
ENST00000475551.5:c.42_43del	ENSP00000417180.1:p.Phe15ProfsTer4
ENST00000476594.1:n.22_23del
ENST00000478169.5:n.282_283del
ENST00000478582.5:n.271_272del
ENST00000480658.5:n.156_157del
ENST00000482714.5:n.126+10485_126+10486del
ENST00000488727.5:c.60_61del	ENSP00000417251.1:p.Phe21ProfsTer4
ENST00000492883.5:n.156_157del
ENST00000541586.5:c.31-25636_31-25635del	ENSP00000444725.1:n.31-25636_31-25635del
ENST00000544363.5:c.60_61del	ENSP00000438035.1:p.Phe21ProfsTer4
NM_001029835.2:c.123_124del , LRG_664t1:c.123_124del	NP_001025006.1:p.Phe42ProfsTer4
NM_001167934.1:c.31-25636_31-25635del	NP_001161406.1:n.31-25636_31-25635del
NM_001167935.1:c.60_61del	NP_001161407.1:p.Phe21ProfsTer4
NM_031443.3:c.60_61del , LRG_664t2:c.60_61del	NP_113631.1:p.Phe21ProfsTer4
NR_030770.1:n.142_143del
XM_006715785.2:c.93+10485_93+10486del	XP_006715848.1:n.93+10485_93+10486del
XM_006715786.2:c.123_124del	XP_006715849.1:p.Phe42ProfsTer4
XM_011515561.1:c.123_124del	XP_011513863.1:p.Phe42ProfsTer4
XM_011515562.1:c.60_61del	XP_011513864.1:p.Phe21ProfsTer4
XM_011515563.1:c.93+10485_93+10486del	XP_011513865.1:n.93+10485_93+10486del
XM_011515564.1:c.31-25636_31-25635del	XP_011513866.1:n.31-25636_31-25635del
XR_428088.2:n.136_137del
NM_001363458.1:c.60_61del	NP_001350387.1:p.Phe21ProfsTer4
NM_001363459.1:c.31-25636_31-25635del	NP_001350388.1:n.31-25636_31-25635del
XM_006715785.4:c.93+10485_93+10486del	XP_006715848.1:n.93+10485_93+10486del
XM_006715786.3:c.123_124del	XP_006715849.1:p.Phe42ProfsTer4
XM_011515561.2:c.123_124del	XP_011513863.1:p.Phe42ProfsTer4
XM_011515563.3:c.93+10485_93+10486del	XP_011513865.1:n.93+10485_93+10486del
XM_017012671.1:c.123_124del	XP_016868160.1:p.Phe42ProfsTer4
XM_017012672.2:c.93+10485_93+10486del	XP_016868161.1:n.93+10485_93+10486del
XM_017012673.1:c.31-25636_31-25635del	XP_016868162.1:n.31-25636_31-25635del
XR_428088.3:n.156_157del
NM_001363458.2:c.60_61del	NP_001350387.1:p.Phe21ProfsTer4
NM_001363459.2:c.31-25636_31-25635del	NP_001350388.1:n.31-25636_31-25635del
NM_031443.4:c.60_61del MANE Select	NP_113631.1:p.Phe21ProfsTer4
NR_030770.2:n.142_143del
NM_001167934.2:c.31-25636_31-25635del	NP_001161406.1:n.31-25636_31-25635del
NM_001167935.2:c.60_61del	NP_001161407.1:p.Phe21ProfsTer4