Canonical Allele Identifier: CA35851429

Gene: CFHR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196957669C>T , CM000663.2:g.196957669C>T	GRCh38
NC_000001.10:g.196926799C>T , CM000663.1:g.196926799C>T	GRCh37
NC_000001.9:g.195193422C>T	NCBI36
NG_042816.1:g.18902C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005666.4:c.431-222C>T MANE Select	NP_005657.1:n.431-222C>T
ENST00000367415.8:c.431-222C>T MANE Select	ENSP00000356385.4:n.431-222C>T
NM_001312672.1:c.59-222C>T	NP_001299601.1:n.59-222C>T
NM_005666.2:c.431-222C>T	NP_005657.1:n.431-222C>T
NM_005666.3:c.431-222C>T	NP_005657.1:n.431-222C>T
ENST00000367415.6:c.431-222C>T	ENSP00000356385.4:n.431-222C>T
ENST00000367421.4:c.431-222C>T	ENSP00000356391.3:n.431-222C>T
ENST00000367421.5:c.686-222C>T	ENSP00000356391.4:n.686-222C>T
ENST00000473386.1:n.82-222C>T
ENST00000476712.6:c.383-222C>T	ENSP00000476677.1:n.383-222C>T
ENST00000489703.2:c.371-222C>T	ENSP00000514689.1:n.371-222C>T
ENST00000496448.5:n.290-222C>T
ENST00000496448.6:c.236-222C>T	ENSP00000496889.1:n.236-222C>T
ENST00000649283.1:c.269-222C>T	ENSP00000496999.1:n.269-222C>T
ENST00000649960.1:c.250-222C>T
ENST00000649960.2:c.254-222C>T	ENSP00000497428.2:n.254-222C>T
ENST00000699922.1:n.839-222C>T
XM_005245113.2:c.236-222C>T	XP_005245170.1:n.236-222C>T
XM_005245113.3:c.236-222C>T	XP_005245170.1:n.236-222C>T
XM_006711285.1:c.269-222C>T	XP_006711348.1:n.269-222C>T
XM_011509458.1:c.419-222C>T	XP_011507760.1:n.419-222C>T
XM_011509458.2:c.419-222C>T	XP_011507760.1:n.419-222C>T
XM_011509459.1:c.371-222C>T	XP_011507761.1:n.371-222C>T
XM_011509459.2:c.371-222C>T	XP_011507761.1:n.371-222C>T
XM_011509460.1:c.224-222C>T	XP_011507762.1:n.224-222C>T
XM_011509460.2:c.224-222C>T	XP_011507762.1:n.224-222C>T
XM_017001109.1:c.254-222C>T	XP_016856598.1:n.254-222C>T