Canonical Allele Identifier: CA838832279

Gene: CCM2

Linked Data

• dbSNP Id: rs1252570047
• gnomAD v3: 7-45000297-G-GCGGGC
• gnomAD v4: 7-45000297-G-GCGGGC
• MyVariant Identifiers: chr7:g.45039896_45039897insCGGGC (hg19) ; chr7:g.45000297_45000298insCGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000303_45000307dup , CM000669.2:g.45000303_45000307dup	GRCh38
NC_000007.13:g.45039902_45039906dup , CM000669.1:g.45039902_45039906dup	GRCh37
NC_000007.12:g.45006427_45006431dup	NCBI36
NG_016295.1:g.5116_5120dup , LRG_664:g.5116_5120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-31_-27dup MANE Select	ENSP00000258781.7:n.-31_-27dup
ENST00000258781.10:c.-31_-27dup	ENSP00000258781.6:n.-31_-27dup
ENST00000461377.5:n.383+446_383+450dup
ENST00000478582.5:n.115_119dup
ENST00000488727.5:c.-31_-27dup	ENSP00000417251.1:n.-31_-27dup
ENST00000541586.5:c.-31_-27dup	ENSP00000444725.1:n.-31_-27dup
ENST00000544363.5:c.-31_-27dup	ENSP00000438035.1:n.-31_-27dup
NM_001167934.1:c.-31_-27dup	NP_001161406.1:n.-31_-27dup
NM_001167935.1:c.-31_-27dup	NP_001161407.1:n.-31_-27dup
NM_031443.3:c.-31_-27dup , LRG_664t2:c.-31_-27dup	NP_113631.1:n.-31_-27dup
NR_030770.1:n.112+446_112+450dup
XM_011515562.1:c.-31_-27dup	XP_011513864.1:n.-31_-27dup
XM_011515564.1:c.-31_-27dup	XP_011513866.1:n.-31_-27dup
NM_001363458.1:c.-31_-27dup	NP_001350387.1:n.-31_-27dup
NM_001363459.1:c.-31_-27dup	NP_001350388.1:n.-31_-27dup
XM_017012673.1:c.-31_-27dup	XP_016868162.1:n.-31_-27dup
NM_001363458.2:c.-31_-27dup	NP_001350387.1:n.-31_-27dup
NM_001363459.2:c.-31_-27dup	NP_001350388.1:n.-31_-27dup
NM_031443.4:c.-31_-27dup MANE Select	NP_113631.1:n.-31_-27dup
NR_030770.2:n.112+446_112+450dup
NM_001167934.2:c.-31_-27dup	NP_001161406.1:n.-31_-27dup
NM_001167935.2:c.-31_-27dup	NP_001161407.1:n.-31_-27dup