Canonical Allele Identifier: CA367431186

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45073573T>C , CM000669.2:g.45073573T>C	GRCh38
NC_000007.13:g.45113172T>C , CM000669.1:g.45113172T>C	GRCh37
NC_000007.12:g.45079697T>C	NCBI36
NG_016295.1:g.78386T>C , LRG_664:g.78386T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.915+2T>C MANE Select	NP_113631.1:n.915+2T>C
ENST00000258781.11:c.915+2T>C MANE Select	ENSP00000258781.7:n.915+2T>C
NM_001029835.2:c.978+2T>C , LRG_664t1:c.978+2T>C	NP_001025006.1:n.978+2T>C
NM_001167934.1:c.741+2T>C	NP_001161406.1:n.741+2T>C
NM_001167934.2:c.741+2T>C	NP_001161406.1:n.741+2T>C
NM_001167935.1:c.642+2T>C	NP_001161407.1:n.642+2T>C
NM_001167935.2:c.642+2T>C	NP_001161407.1:n.642+2T>C
NM_001363458.1:c.1038+2T>C	NP_001350387.1:n.1038+2T>C
NM_001363458.2:c.1038+2T>C	NP_001350387.1:n.1038+2T>C
NM_001363459.1:c.864+2T>C	NP_001350388.1:n.864+2T>C
NM_001363459.2:c.864+2T>C	NP_001350388.1:n.864+2T>C
NM_031443.3:c.915+2T>C , LRG_664t2:c.915+2T>C	NP_113631.1:n.915+2T>C
NR_030770.1:n.997+2T>C
NR_030770.2:n.997+2T>C
ENST00000258781.10:c.915+2T>C	ENSP00000258781.6:n.915+2T>C
ENST00000381112.7:c.978+2T>C	ENSP00000370503.3:n.978+2T>C
ENST00000461377.5:n.1268+2T>C
ENST00000474617.1:c.624+2T>C	ENSP00000419474.1:n.624+2T>C
ENST00000475551.5:c.897+2T>C	ENSP00000417180.1:n.897+2T>C
ENST00000477605.1:n.1250+2T>C
ENST00000481194.1:n.3792T>C
ENST00000488727.5:c.*41+2T>C	ENSP00000417251.1:n.*41+2T>C
ENST00000541586.5:c.741+2T>C	ENSP00000444725.1:n.741+2T>C
ENST00000544363.5:c.642+2T>C	ENSP00000438035.1:n.642+2T>C
ENST00000648329.1:c.*1703+2T>C	ENSP00000496916.1:n.*1703+2T>C
XM_006715785.2:c.804+2T>C	XP_006715848.1:n.804+2T>C
XM_006715785.4:c.804+2T>C	XP_006715848.1:n.804+2T>C
XM_006715786.2:c.705+2T>C	XP_006715849.1:n.705+2T>C
XM_006715786.3:c.705+2T>C	XP_006715849.1:n.705+2T>C
XM_011515561.1:c.1101+2T>C	XP_011513863.1:n.1101+2T>C
XM_011515561.2:c.1101+2T>C	XP_011513863.1:n.1101+2T>C
XM_011515562.1:c.1038+2T>C	XP_011513864.1:n.1038+2T>C
XM_011515563.1:c.927+2T>C	XP_011513865.1:n.927+2T>C
XM_011515563.3:c.927+2T>C	XP_011513865.1:n.927+2T>C
XM_011515564.1:c.864+2T>C	XP_011513866.1:n.864+2T>C
XR_428088.2:n.933+2T>C
XR_428088.3:n.953+2T>C