Canonical Allele Identifier: CA367427134

Gene: CCM2

Linked Data

• dbSNP Id: rs1220597500
• gnomAD v2: 7-45077948-C-T
• gnomAD v4: 7-45038349-C-T
• MyVariant Identifiers: chr7:g.45077948C>T (hg19) ; chr7:g.45038349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038349C>T , CM000669.2:g.45038349C>T	GRCh38
NC_000007.13:g.45077948C>T , CM000669.1:g.45077948C>T	GRCh37
NC_000007.12:g.45044473C>T	NCBI36
NG_016295.1:g.43162C>T , LRG_664:g.43162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.127C>T MANE Select	ENSP00000258781.7:p.His43Tyr
ENST00000648329.1:c.127C>T	ENSP00000496916.1:p.His43Tyr
ENST00000258781.10:c.127C>T	ENSP00000258781.6:p.His43Tyr
ENST00000381112.7:c.190C>T	ENSP00000370503.3:p.His64Tyr
ENST00000461377.5:n.480C>T
ENST00000472223.5:n.194C>T
ENST00000474617.1:c.109C>T	ENSP00000419474.1:p.His37Tyr
ENST00000475551.5:c.109C>T	ENSP00000417180.1:p.His37Tyr
ENST00000476594.1:n.89C>T
ENST00000478169.5:n.349C>T
ENST00000478582.5:n.338C>T
ENST00000480658.5:n.223C>T
ENST00000482714.5:n.126+10552C>T
ENST00000488727.5:c.127C>T	ENSP00000417251.1:p.His43Tyr
ENST00000492883.5:n.223C>T
ENST00000541586.5:c.31-25569C>T	ENSP00000444725.1:n.31-25569C>T
ENST00000544363.5:c.127C>T	ENSP00000438035.1:p.His43Tyr
NM_001029835.2:c.190C>T , LRG_664t1:c.190C>T	NP_001025006.1:p.His64Tyr
NM_001167934.1:c.31-25569C>T	NP_001161406.1:n.31-25569C>T
NM_001167935.1:c.127C>T	NP_001161407.1:p.His43Tyr
NM_031443.3:c.127C>T , LRG_664t2:c.127C>T	NP_113631.1:p.His43Tyr
NR_030770.1:n.209C>T
XM_006715785.2:c.93+10552C>T	XP_006715848.1:n.93+10552C>T
XM_006715786.2:c.190C>T	XP_006715849.1:p.His64Tyr
XM_011515561.1:c.190C>T	XP_011513863.1:p.His64Tyr
XM_011515562.1:c.127C>T	XP_011513864.1:p.His43Tyr
XM_011515563.1:c.93+10552C>T	XP_011513865.1:n.93+10552C>T
XM_011515564.1:c.31-25569C>T	XP_011513866.1:n.31-25569C>T
XR_428088.2:n.203C>T
NM_001363458.1:c.127C>T	NP_001350387.1:p.His43Tyr
NM_001363459.1:c.31-25569C>T	NP_001350388.1:n.31-25569C>T
XM_006715785.4:c.93+10552C>T	XP_006715848.1:n.93+10552C>T
XM_006715786.3:c.190C>T	XP_006715849.1:p.His64Tyr
XM_011515561.2:c.190C>T	XP_011513863.1:p.His64Tyr
XM_011515563.3:c.93+10552C>T	XP_011513865.1:n.93+10552C>T
XM_017012671.1:c.190C>T	XP_016868160.1:p.His64Tyr
XM_017012672.2:c.93+10552C>T	XP_016868161.1:n.93+10552C>T
XM_017012673.1:c.31-25569C>T	XP_016868162.1:n.31-25569C>T
XR_428088.3:n.223C>T
NM_001363458.2:c.127C>T	NP_001350387.1:p.His43Tyr
NM_001363459.2:c.31-25569C>T	NP_001350388.1:n.31-25569C>T
NM_031443.4:c.127C>T MANE Select	NP_113631.1:p.His43Tyr
NR_030770.2:n.209C>T
NM_001167934.2:c.31-25569C>T	NP_001161406.1:n.31-25569C>T
NM_001167935.2:c.127C>T	NP_001161407.1:p.His43Tyr