Canonical Allele Identifier: CA1704022391

Gene: CCM2

Linked Data

• dbSNP Id: rs1583818708
• gnomAD v4: 7-45000205-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000205A>C , CM000669.2:g.45000205A>C	GRCh38
NC_000007.13:g.45039804A>C , CM000669.1:g.45039804A>C	GRCh37
NC_000007.12:g.45006329A>C	NCBI36
NG_016295.1:g.5018A>C , LRG_664:g.5018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-129A>C MANE Select	ENSP00000258781.7:n.-129A>C
ENST00000258781.10:c.-129A>C	ENSP00000258781.6:n.-129A>C
ENST00000461377.5:n.383+348A>C
ENST00000478582.5:n.17A>C
ENST00000541586.5:c.-129A>C	ENSP00000444725.1:n.-129A>C
ENST00000544363.5:c.-129A>C	ENSP00000438035.1:n.-129A>C
NM_001167934.1:c.-129A>C	NP_001161406.1:n.-129A>C
NM_001167935.1:c.-129A>C	NP_001161407.1:n.-129A>C
NM_031443.3:c.-129A>C , LRG_664t2:c.-129A>C	NP_113631.1:n.-129A>C
NR_030770.1:n.112+348A>C
NM_001363458.1:c.-129A>C	NP_001350387.1:n.-129A>C
NM_001363459.1:c.-129A>C	NP_001350388.1:n.-129A>C
NM_001363458.2:c.-129A>C	NP_001350387.1:n.-129A>C
NM_001363459.2:c.-129A>C	NP_001350388.1:n.-129A>C
NM_031443.4:c.-129A>C MANE Select	NP_113631.1:n.-129A>C
NR_030770.2:n.112+348A>C
NM_001167934.2:c.-129A>C	NP_001161406.1:n.-129A>C
NM_001167935.2:c.-129A>C	NP_001161407.1:n.-129A>C