Canonical Allele Identifier: CA367423672

Gene: CCM2

Linked Data

• gnomAD v4: 7-45000351-G-T
• MyVariant Identifiers: chr7:g.45039950G>T (hg19) ; chr7:g.45000351G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000351G>T , CM000669.2:g.45000351G>T	GRCh38
NC_000007.13:g.45039950G>T , CM000669.1:g.45039950G>T	GRCh37
NC_000007.12:g.45006475G>T	NCBI36
NG_016295.1:g.5164G>T , LRG_664:g.5164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.18G>T MANE Select	ENSP00000258781.7:p.Lys6Asn
ENST00000648329.1:c.18G>T	ENSP00000496916.1:p.Lys6Asn
ENST00000258781.10:c.18G>T	ENSP00000258781.6:p.Lys6Asn
ENST00000461377.5:n.383+494G>T
ENST00000478582.5:n.163G>T
ENST00000488727.5:c.18G>T	ENSP00000417251.1:p.Lys6Asn
ENST00000541586.5:c.18G>T	ENSP00000444725.1:p.Lys6Asn
ENST00000544363.5:c.18G>T	ENSP00000438035.1:p.Lys6Asn
NM_001167934.1:c.18G>T	NP_001161406.1:p.Lys6Asn
NM_001167935.1:c.18G>T	NP_001161407.1:p.Lys6Asn
NM_031443.3:c.18G>T , LRG_664t2:c.18G>T	NP_113631.1:p.Lys6Asn
NR_030770.1:n.112+494G>T
XM_011515562.1:c.18G>T	XP_011513864.1:p.Lys6Asn
XM_011515564.1:c.18G>T	XP_011513866.1:p.Lys6Asn
NM_001363458.1:c.18G>T	NP_001350387.1:p.Lys6Asn
NM_001363459.1:c.18G>T	NP_001350388.1:p.Lys6Asn
XM_017012673.1:c.18G>T	XP_016868162.1:p.Lys6Asn
NM_001363458.2:c.18G>T	NP_001350387.1:p.Lys6Asn
NM_001363459.2:c.18G>T	NP_001350388.1:p.Lys6Asn
NM_031443.4:c.18G>T MANE Select	NP_113631.1:p.Lys6Asn
NR_030770.2:n.112+494G>T
NM_001167934.2:c.18G>T	NP_001161406.1:p.Lys6Asn
NM_001167935.2:c.18G>T	NP_001161407.1:p.Lys6Asn