Canonical Allele Identifier: CA157988587

Gene: CCM2

Linked Data

• ClinVar Variation Id: 427912
• ClinVar RCV Id: RCV000594482
• dbSNP Id: rs137874552
• gnomAD v2: 7-45103779-G-C
• gnomAD v3: 7-45064180-G-C
• gnomAD v4: 7-45064180-G-C
• MyVariant Identifiers: chr7:g.45103779G>C (hg19) ; chr7:g.45064180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45064180G>C , CM000669.2:g.45064180G>C	GRCh38
NC_000007.13:g.45103779G>C , CM000669.1:g.45103779G>C	GRCh37
NC_000007.12:g.45070304G>C	NCBI36
NG_016295.1:g.68993G>C , LRG_664:g.68993G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.288+179G>C MANE Select	ENSP00000258781.7:n.288+179G>C
ENST00000648329.1:c.288+179G>C	ENSP00000496916.1:n.288+179G>C
ENST00000258781.10:c.288+179G>C	ENSP00000258781.6:n.288+179G>C
ENST00000381112.7:c.351+179G>C	ENSP00000370503.3:n.351+179G>C
ENST00000461377.5:n.641+179G>C
ENST00000472223.5:n.355+179G>C
ENST00000474617.1:c.270+179G>C	ENSP00000419474.1:n.270+179G>C
ENST00000475551.5:c.270+179G>C	ENSP00000417180.1:n.270+179G>C
ENST00000476594.1:n.373+179G>C
ENST00000478169.5:n.510+179G>C
ENST00000478582.5:n.499+179G>C
ENST00000480658.5:n.301-4263G>C
ENST00000482714.5:n.210+179G>C
ENST00000488727.5:c.288+179G>C	ENSP00000417251.1:n.288+179G>C
ENST00000492883.5:n.301-283G>C
ENST00000541586.5:c.114+179G>C	ENSP00000444725.1:n.114+179G>C
ENST00000544363.5:c.288+179G>C	ENSP00000438035.1:n.288+179G>C
NM_001029835.2:c.351+179G>C , LRG_664t1:c.351+179G>C	NP_001025006.1:n.351+179G>C
NM_001167934.1:c.114+179G>C	NP_001161406.1:n.114+179G>C
NM_001167935.1:c.288+179G>C	NP_001161407.1:n.288+179G>C
NM_031443.3:c.288+179G>C , LRG_664t2:c.288+179G>C	NP_113631.1:n.288+179G>C
NR_030770.1:n.370+179G>C
XM_006715785.2:c.177+179G>C	XP_006715848.1:n.177+179G>C
XM_006715786.2:c.351+179G>C	XP_006715849.1:n.351+179G>C
XM_011515561.1:c.351+179G>C	XP_011513863.1:n.351+179G>C
XM_011515562.1:c.288+179G>C	XP_011513864.1:n.288+179G>C
XM_011515563.1:c.177+179G>C	XP_011513865.1:n.177+179G>C
XM_011515564.1:c.114+179G>C	XP_011513866.1:n.114+179G>C
XR_428088.2:n.364+179G>C
NM_001363458.1:c.288+179G>C	NP_001350387.1:n.288+179G>C
NM_001363459.1:c.114+179G>C	NP_001350388.1:n.114+179G>C
XM_006715785.4:c.177+179G>C	XP_006715848.1:n.177+179G>C
XM_006715786.3:c.351+179G>C	XP_006715849.1:n.351+179G>C
XM_011515561.2:c.351+179G>C	XP_011513863.1:n.351+179G>C
XM_011515563.3:c.177+179G>C	XP_011513865.1:n.177+179G>C
XM_017012671.1:c.351+179G>C	XP_016868160.1:n.351+179G>C
XM_017012672.2:c.177+179G>C	XP_016868161.1:n.177+179G>C
XM_017012673.1:c.114+179G>C	XP_016868162.1:n.114+179G>C
XR_428088.3:n.384+179G>C
NM_001363458.2:c.288+179G>C	NP_001350387.1:n.288+179G>C
NM_001363459.2:c.114+179G>C	NP_001350388.1:n.114+179G>C
NM_031443.4:c.288+179G>C MANE Select	NP_113631.1:n.288+179G>C
NR_030770.2:n.370+179G>C
NM_001167934.2:c.114+179G>C	NP_001161406.1:n.114+179G>C
NM_001167935.2:c.288+179G>C	NP_001161407.1:n.288+179G>C