Canonical Allele Identifier: CA1704022450

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000231C= , CM000669.2:g.45000231C=	GRCh38
NC_000007.13:g.45039830C= , CM000669.1:g.45039830C=	GRCh37
NC_000007.12:g.45006355C=	NCBI36
NG_016295.1:g.5044C= , LRG_664:g.5044C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-103C= MANE Select	ENSP00000258781.7:n.-103C=
ENST00000258781.10:c.-103C=	ENSP00000258781.6:n.-103C=
ENST00000461377.5:n.383+374C=
ENST00000478582.5:n.43C=
ENST00000541586.5:c.-103C=	ENSP00000444725.1:n.-103C=
ENST00000544363.5:c.-103C=	ENSP00000438035.1:n.-103C=
NM_001167934.1:c.-103C=	NP_001161406.1:n.-103C=
NM_001167935.1:c.-103C=	NP_001161407.1:n.-103C=
NM_031443.3:c.-103C= , LRG_664t2:c.-103C=	NP_113631.1:n.-103C=
NR_030770.1:n.112+374C=
XM_011515562.1:c.-103C=	XP_011513864.1:n.-103C=
NM_001363458.1:c.-103C=	NP_001350387.1:n.-103C=
NM_001363459.1:c.-103C=	NP_001350388.1:n.-103C=
NM_001363458.2:c.-103C=	NP_001350387.1:n.-103C=
NM_001363459.2:c.-103C=	NP_001350388.1:n.-103C=
NM_031443.4:c.-103C= MANE Select	NP_113631.1:n.-103C=
NR_030770.2:n.112+374C=
NM_001167934.2:c.-103C=	NP_001161406.1:n.-103C=
NM_001167935.2:c.-103C=	NP_001161407.1:n.-103C=