Canonical Allele Identifier: CA158001312

Gene: CCM2

Linked Data

• ClinVar Variation Id: 427914
• ClinVar RCV Id: RCV000591207
• dbSNP Id: rs182880220
• gnomAD v2: 7-45059730-A-T
• gnomAD v3: 7-45020131-A-T
• gnomAD v4: 7-45020131-A-T
• MyVariant Identifiers: chr7:g.45059730A>T (hg19) ; chr7:g.45020131A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45020131A>T , CM000669.2:g.45020131A>T	GRCh38
NC_000007.13:g.45059730A>T , CM000669.1:g.45059730A>T	GRCh37
NC_000007.12:g.45026255A>T	NCBI36
NG_016295.1:g.24944A>T , LRG_664:g.24944A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.31-18122A>T MANE Select	ENSP00000258781.7:n.31-18122A>T
ENST00000648329.1:c.31-18122A>T	ENSP00000496916.1:n.31-18122A>T
ENST00000258781.10:c.31-18122A>T	ENSP00000258781.6:n.31-18122A>T
ENST00000461377.5:n.384-18122A>T
ENST00000478582.5:n.176-9313A>T
ENST00000488727.5:c.31-18122A>T	ENSP00000417251.1:n.31-18122A>T
ENST00000541586.5:c.30+19768A>T	ENSP00000444725.1:n.30+19768A>T
ENST00000544363.5:c.31-18122A>T	ENSP00000438035.1:n.31-18122A>T
NM_001167934.1:c.30+19768A>T	NP_001161406.1:n.30+19768A>T
NM_001167935.1:c.31-18122A>T	NP_001161407.1:n.31-18122A>T
NM_031443.3:c.31-18122A>T , LRG_664t2:c.31-18122A>T	NP_113631.1:n.31-18122A>T
NR_030770.1:n.113-18122A>T
XM_011515562.1:c.31-18122A>T	XP_011513864.1:n.31-18122A>T
XM_011515564.1:c.30+19768A>T	XP_011513866.1:n.30+19768A>T
NM_001363458.1:c.31-18122A>T	NP_001350387.1:n.31-18122A>T
NM_001363459.1:c.30+19768A>T	NP_001350388.1:n.30+19768A>T
XM_017012673.1:c.30+19768A>T	XP_016868162.1:n.30+19768A>T
NM_001363458.2:c.31-18122A>T	NP_001350387.1:n.31-18122A>T
NM_001363459.2:c.30+19768A>T	NP_001350388.1:n.30+19768A>T
NM_031443.4:c.31-18122A>T MANE Select	NP_113631.1:n.31-18122A>T
NR_030770.2:n.113-18122A>T
NM_001167934.2:c.30+19768A>T	NP_001161406.1:n.30+19768A>T
NM_001167935.2:c.31-18122A>T	NP_001161407.1:n.31-18122A>T