Canonical Allele Identifier: CA4246827

Gene: CCM2

Linked Data

• ClinVar Variation Id: 522245
• ClinVar RCV Id: RCV000625098 ; RCV001527723
• dbSNP Id: rs2289365
• ExAC: 7:45067267 G / C
• gnomAD v2: 7-45067267-G-C
• gnomAD v3: 7-45027668-G-C
• gnomAD v4: 7-45027668-G-C
• MyVariant Identifiers: chr7:g.45067267G>C (hg19) ; chr7:g.45027668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45027668G>C , CM000669.2:g.45027668G>C	GRCh38
NC_000007.13:g.45067267G>C , CM000669.1:g.45067267G>C	GRCh37
NC_000007.12:g.45033792G>C	NCBI36
NG_016295.1:g.32481G>C , LRG_664:g.32481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.31-10585G>C MANE Select	ENSP00000258781.7:n.31-10585G>C
ENST00000648329.1:c.31-10585G>C	ENSP00000496916.1:n.31-10585G>C
ENST00000258781.10:c.31-10585G>C	ENSP00000258781.6:n.31-10585G>C
ENST00000381112.7:c.-37G>C	ENSP00000370503.3:n.-37G>C
ENST00000461377.5:n.384-10585G>C
ENST00000475551.5:c.-118G>C	ENSP00000417180.1:n.-118G>C
ENST00000478169.5:n.252+402G>C
ENST00000478582.5:n.176-1776G>C
ENST00000488727.5:c.31-10585G>C	ENSP00000417251.1:n.31-10585G>C
ENST00000541586.5:c.30+27305G>C	ENSP00000444725.1:n.30+27305G>C
ENST00000544363.5:c.31-10585G>C	ENSP00000438035.1:n.31-10585G>C
NM_001029835.2:c.-37G>C , LRG_664t1:c.-37G>C	NP_001025006.1:n.-37G>C
NM_001167934.1:c.30+27305G>C	NP_001161406.1:n.30+27305G>C
NM_001167935.1:c.31-10585G>C	NP_001161407.1:n.31-10585G>C
NM_031443.3:c.31-10585G>C , LRG_664t2:c.31-10585G>C	NP_113631.1:n.31-10585G>C
NR_030770.1:n.113-10585G>C
XM_011515562.1:c.31-10585G>C	XP_011513864.1:n.31-10585G>C
XM_011515564.1:c.30+27305G>C	XP_011513866.1:n.30+27305G>C
NM_001363458.1:c.31-10585G>C	NP_001350387.1:n.31-10585G>C
NM_001363459.1:c.30+27305G>C	NP_001350388.1:n.30+27305G>C
XM_006715785.4:c.-37G>C	XP_006715848.1:n.-37G>C
XM_006715786.3:c.-37G>C	XP_006715849.1:n.-37G>C
XM_011515563.3:c.-37G>C	XP_011513865.1:n.-37G>C
XM_017012672.2:c.-37G>C	XP_016868161.1:n.-37G>C
XM_017012673.1:c.30+27305G>C	XP_016868162.1:n.30+27305G>C
NM_001363458.2:c.31-10585G>C	NP_001350387.1:n.31-10585G>C
NM_001363459.2:c.30+27305G>C	NP_001350388.1:n.30+27305G>C
NM_031443.4:c.31-10585G>C MANE Select	NP_113631.1:n.31-10585G>C
NR_030770.2:n.113-10585G>C
NM_001167934.2:c.30+27305G>C	NP_001161406.1:n.30+27305G>C
NM_001167935.2:c.31-10585G>C	NP_001161407.1:n.31-10585G>C