Canonical Allele Identifier: CA4247010

Gene: CCM2

Linked Data

• dbSNP Id: rs369353708
• ExAC: 7:45108060 C / T
• gnomAD v2: 7-45108060-C-T
• gnomAD v3: 7-45068461-C-T
• gnomAD v4: 7-45068461-C-T
• COSMIC: COSM3923681
• MyVariant Identifiers: chr7:g.45108060C>T (hg19) ; chr7:g.45068461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068461C>T , CM000669.2:g.45068461C>T	GRCh38
NC_000007.13:g.45108060C>T , CM000669.1:g.45108060C>T	GRCh37
NC_000007.12:g.45074585C>T	NCBI36
NG_016295.1:g.73274C>T , LRG_664:g.73274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.491C>T MANE Select	ENSP00000258781.7:p.Ser164Phe
ENST00000648329.1:c.491C>T	ENSP00000496916.1:p.Ser164Phe
ENST00000258781.10:c.491C>T	ENSP00000258781.6:p.Ser164Phe
ENST00000381112.7:c.554C>T	ENSP00000370503.3:p.Ser185Phe
ENST00000461377.5:n.844C>T
ENST00000472223.5:n.558C>T
ENST00000474617.1:c.454+3815C>T	ENSP00000419474.1:n.454+3815C>T
ENST00000475551.5:c.473C>T	ENSP00000417180.1:p.Ser158Phe
ENST00000477605.1:n.826C>T
ENST00000478582.5:n.684-1365C>T
ENST00000480658.5:n.319C>T
ENST00000481194.1:n.45-1365C>T
ENST00000482714.5:n.413C>T
ENST00000488727.5:c.491C>T	ENSP00000417251.1:p.Ser164Phe
ENST00000492883.5:n.485-1365C>T
ENST00000541586.5:c.317C>T	ENSP00000444725.1:p.Ser106Phe
ENST00000544363.5:c.472+3815C>T	ENSP00000438035.1:n.472+3815C>T
NM_001029835.2:c.554C>T , LRG_664t1:c.554C>T	NP_001025006.1:p.Ser185Phe
NM_001167934.1:c.317C>T	NP_001161406.1:p.Ser106Phe
NM_001167935.1:c.472+3815C>T	NP_001161407.1:n.472+3815C>T
NM_031443.3:c.491C>T , LRG_664t2:c.491C>T	NP_113631.1:p.Ser164Phe
NR_030770.1:n.573C>T
XM_006715785.2:c.380C>T	XP_006715848.1:p.Ser127Phe
XM_006715786.2:c.535+3815C>T	XP_006715849.1:n.535+3815C>T
XM_011515561.1:c.554C>T	XP_011513863.1:p.Ser185Phe
XM_011515562.1:c.491C>T	XP_011513864.1:p.Ser164Phe
XM_011515563.1:c.380C>T	XP_011513865.1:p.Ser127Phe
XM_011515564.1:c.317C>T	XP_011513866.1:p.Ser106Phe
XR_428088.2:n.567C>T
NM_001363458.1:c.491C>T	NP_001350387.1:p.Ser164Phe
NM_001363459.1:c.317C>T	NP_001350388.1:p.Ser106Phe
XM_006715785.4:c.380C>T	XP_006715848.1:p.Ser127Phe
XM_006715786.3:c.535+3815C>T	XP_006715849.1:n.535+3815C>T
XM_011515561.2:c.554C>T	XP_011513863.1:p.Ser185Phe
XM_011515563.3:c.380C>T	XP_011513865.1:p.Ser127Phe
XM_017012671.1:c.554C>T	XP_016868160.1:p.Ser185Phe
XM_017012672.2:c.380C>T	XP_016868161.1:p.Ser127Phe
XM_017012673.1:c.317C>T	XP_016868162.1:p.Ser106Phe
XR_428088.3:n.587C>T
NM_001363458.2:c.491C>T	NP_001350387.1:p.Ser164Phe
NM_001363459.2:c.317C>T	NP_001350388.1:p.Ser106Phe
NM_031443.4:c.491C>T MANE Select	NP_113631.1:p.Ser164Phe
NR_030770.2:n.573C>T
NM_001167934.2:c.317C>T	NP_001161406.1:p.Ser106Phe
NM_001167935.2:c.472+3815C>T	NP_001161407.1:n.472+3815C>T