Canonical Allele Identifier: CA4246819

Gene: CCM2

Linked Data

• ClinVar Variation Id: 2759819
• ClinVar RCV Id: RCV003498580
• dbSNP Id: rs773187380
• ExAC: 7:45039967 G / T
• gnomAD v2: 7-45039967-G-T
• gnomAD v3: 7-45000368-G-T
• gnomAD v4: 7-45000368-G-T
• MyVariant Identifiers: chr7:g.45039967G>T (hg19) ; chr7:g.45000368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000368G>T , CM000669.2:g.45000368G>T	GRCh38
NC_000007.13:g.45039967G>T , CM000669.1:g.45039967G>T	GRCh37
NC_000007.12:g.45006492G>T	NCBI36
NG_016295.1:g.5181G>T , LRG_664:g.5181G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.30+5G>T MANE Select	ENSP00000258781.7:n.30+5G>T
ENST00000648329.1:c.30+5G>T	ENSP00000496916.1:n.30+5G>T
ENST00000258781.10:c.30+5G>T	ENSP00000258781.6:n.30+5G>T
ENST00000461377.5:n.383+511G>T
ENST00000478582.5:n.175+5G>T
ENST00000488727.5:c.30+5G>T	ENSP00000417251.1:n.30+5G>T
ENST00000541586.5:c.30+5G>T	ENSP00000444725.1:n.30+5G>T
ENST00000544363.5:c.30+5G>T	ENSP00000438035.1:n.30+5G>T
NM_001167934.1:c.30+5G>T	NP_001161406.1:n.30+5G>T
NM_001167935.1:c.30+5G>T	NP_001161407.1:n.30+5G>T
NM_031443.3:c.30+5G>T , LRG_664t2:c.30+5G>T	NP_113631.1:n.30+5G>T
NR_030770.1:n.112+511G>T
XM_011515562.1:c.30+5G>T	XP_011513864.1:n.30+5G>T
XM_011515564.1:c.30+5G>T	XP_011513866.1:n.30+5G>T
NM_001363458.1:c.30+5G>T	NP_001350387.1:n.30+5G>T
NM_001363459.1:c.30+5G>T	NP_001350388.1:n.30+5G>T
XM_017012673.1:c.30+5G>T	XP_016868162.1:n.30+5G>T
NM_001363458.2:c.30+5G>T	NP_001350387.1:n.30+5G>T
NM_001363459.2:c.30+5G>T	NP_001350388.1:n.30+5G>T
NM_031443.4:c.30+5G>T MANE Select	NP_113631.1:n.30+5G>T
NR_030770.2:n.112+511G>T
NM_001167934.2:c.30+5G>T	NP_001161406.1:n.30+5G>T
NM_001167935.2:c.30+5G>T	NP_001161407.1:n.30+5G>T