Canonical Allele Identifier: CA1307424

Gene: CFHR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196951018C>T , CM000663.2:g.196951018C>T	GRCh38
NC_000001.10:g.196920148C>T , CM000663.1:g.196920148C>T	GRCh37
NC_000001.9:g.195186771C>T	NCBI36
NG_042816.1:g.12251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489703.2:c.360C>T	ENSP00000514689.1:p.Cys120=
ENST00000649960.2:c.253+1369C>T	ENSP00000497428.2:n.253+1369C>T
ENST00000699921.1:c.594C>T	ENSP00000514705.1:p.Cys198=
ENST00000699922.1:n.828C>T
ENST00000367415.8:c.420C>T MANE Select	ENSP00000356385.4:p.Cys140=
ENST00000367421.5:c.675C>T	ENSP00000356391.4:p.Cys225=
ENST00000496448.6:c.225C>T	ENSP00000496889.1:p.Cys75=
ENST00000649283.1:c.258C>T	ENSP00000496999.1:p.Cys86=
ENST00000649960.1:c.249+1369C>T
ENST00000367415.6:c.420C>T	ENSP00000356385.4:p.Cys140=
ENST00000367421.4:c.420C>T	ENSP00000356391.3:p.Cys140=
ENST00000473386.1:n.82-6873C>T
ENST00000476712.6:c.372C>T	ENSP00000476677.1:p.Cys124=
ENST00000485647.1:n.367C>T
ENST00000496448.5:n.279C>T
NM_001312672.1:c.59-6873C>T	NP_001299601.1:n.59-6873C>T
NM_005666.2:c.420C>T	NP_005657.1:p.Cys140=
NM_005666.3:c.420C>T	NP_005657.1:p.Cys140=
XM_005245113.2:c.225C>T	XP_005245170.1:p.Cys75=
XM_006711285.1:c.258C>T	XP_006711348.1:p.Cys86=
XM_011509458.1:c.418+2C>T	XP_011507760.1:n.418+2C>T
XM_011509459.1:c.360C>T	XP_011507761.1:p.Cys120=
XM_011509460.1:c.223+2C>T	XP_011507762.1:n.223+2C>T
NM_005666.4:c.420C>T MANE Select	NP_005657.1:p.Cys140=
XM_005245113.3:c.225C>T	XP_005245170.1:p.Cys75=
XM_011509458.2:c.418+2C>T	XP_011507760.1:n.418+2C>T
XM_011509459.2:c.360C>T	XP_011507761.1:p.Cys120=
XM_011509460.2:c.223+2C>T	XP_011507762.1:n.223+2C>T
XM_017001109.1:c.253+1369C>T	XP_016856598.1:n.253+1369C>T