Canonical Allele Identifier: CA35846190

Gene: CFHR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196951169T>A , CM000663.2:g.196951169T>A	GRCh38
NC_000001.10:g.196920299T>A , CM000663.1:g.196920299T>A	GRCh37
NC_000001.9:g.195186922T>A	NCBI36
NG_042816.1:g.12402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489703.2:c.370+141T>A	ENSP00000514689.1:n.370+141T>A
ENST00000649960.2:c.253+1520T>A	ENSP00000497428.2:n.253+1520T>A
ENST00000699922.1:n.838+141T>A
ENST00000367415.8:c.430+141T>A MANE Select	ENSP00000356385.4:n.430+141T>A
ENST00000367421.5:c.685+141T>A	ENSP00000356391.4:n.685+141T>A
ENST00000496448.6:c.235+141T>A	ENSP00000496889.1:n.235+141T>A
ENST00000649283.1:c.268+141T>A	ENSP00000496999.1:n.268+141T>A
ENST00000649960.1:c.249+1520T>A
ENST00000367415.6:c.430+141T>A	ENSP00000356385.4:n.430+141T>A
ENST00000367421.4:c.430+141T>A	ENSP00000356391.3:n.430+141T>A
ENST00000473386.1:n.82-6722T>A
ENST00000476712.6:c.382+141T>A	ENSP00000476677.1:n.382+141T>A
ENST00000496448.5:n.289+141T>A
NM_001312672.1:c.59-6722T>A	NP_001299601.1:n.59-6722T>A
NM_005666.2:c.430+141T>A	NP_005657.1:n.430+141T>A
NM_005666.3:c.430+141T>A	NP_005657.1:n.430+141T>A
XM_005245113.2:c.235+141T>A	XP_005245170.1:n.235+141T>A
XM_006711285.1:c.268+141T>A	XP_006711348.1:n.268+141T>A
XM_011509458.1:c.418+153T>A	XP_011507760.1:n.418+153T>A
XM_011509459.1:c.370+141T>A	XP_011507761.1:n.370+141T>A
XM_011509460.1:c.223+153T>A	XP_011507762.1:n.223+153T>A
NM_005666.4:c.430+141T>A MANE Select	NP_005657.1:n.430+141T>A
XM_005245113.3:c.235+141T>A	XP_005245170.1:n.235+141T>A
XM_011509458.2:c.418+153T>A	XP_011507760.1:n.418+153T>A
XM_011509459.2:c.370+141T>A	XP_011507761.1:n.370+141T>A
XM_011509460.2:c.223+153T>A	XP_011507762.1:n.223+153T>A
XM_017001109.1:c.253+1520T>A	XP_016856598.1:n.253+1520T>A