Canonical Allele Identifier: CA367241791

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438090C>G (hg19) ; chr7:g.29398474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398474C>G , CM000669.2:g.29398474C>G	GRCh38
NC_000007.13:g.29438090C>G , CM000669.1:g.29438090C>G	GRCh37
NC_000007.12:g.29404615C>G	NCBI36
NG_029365.2:g.256928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.317C>G	ENSP00000386968.2:p.Thr106Arg
ENST00000439384.6:n.540C>G
ENST00000446446.6:c.278C>G	ENSP00000396867.2:p.Thr93Arg
ENST00000706158.1:c.*222C>G	ENSP00000516236.1:n.*222C>G
ENST00000706159.1:c.190C>G	ENSP00000516237.1:p.Arg64Gly
ENST00000706160.1:c.278C>G	ENSP00000516238.1:p.Thr93Arg
ENST00000706161.1:c.356C>G	ENSP00000516239.1:p.Thr119Arg
ENST00000706162.1:c.278C>G	ENSP00000516240.1:p.Thr93Arg
ENST00000706163.1:c.50-81805C>G	ENSP00000516241.1:n.50-81805C>G
ENST00000222792.11:c.278C>G MANE Select	ENSP00000222792.7:p.Thr93Arg
ENST00000644824.1:c.503C>G	ENSP00000495614.1:p.Thr168Arg
ENST00000222792.10:c.278C>G	ENSP00000222792.6:p.Thr93Arg
ENST00000409350.5:c.317C>G	ENSP00000386968.1:p.Thr106Arg
ENST00000409922.5:n.489C>G
ENST00000409964.6:n.477C>G
ENST00000412536.5:n.298C>G
ENST00000435288.6:c.168+4772C>G	ENSP00000400282.3:n.168+4772C>G
ENST00000439384.5:c.503C>G	ENSP00000409843.1:p.Thr168Arg
ENST00000474070.5:c.378C>G
ENST00000478128.6:n.372C>G
ENST00000482820.6:n.487C>G
ENST00000491856.1:n.1827C>G
ENST00000495789.6:c.278C>G	ENSP00000438587.2:p.Thr93Arg
ENST00000539389.5:c.278C>G	ENSP00000440526.2:p.Thr93Arg
ENST00000539406.5:c.278C>G	ENSP00000444063.2:p.Thr93Arg
NM_001293069.1:c.503C>G	NP_001279998.1:p.Thr168Arg
NM_001293070.1:c.317C>G	NP_001279999.1:p.Thr106Arg
NM_001293071.1:c.173C>G	NP_001280000.1:p.Thr58Arg
NM_001293072.1:c.233C>G	NP_001280001.1:p.Thr78Arg
NM_004067.3:c.278C>G	NP_004058.1:p.Thr93Arg
XM_011515105.1:c.581C>G	XP_011513407.1:p.Thr194Arg
XM_011515106.1:c.542C>G	XP_011513408.1:p.Thr181Arg
XM_011515107.1:c.356C>G	XP_011513409.1:p.Thr119Arg
XM_011515108.1:c.278C>G	XP_011513410.1:p.Thr93Arg
XM_011515109.1:c.239C>G	XP_011513411.1:p.Thr80Arg
XM_011515110.1:c.200C>G	XP_011513412.1:p.Thr67Arg
XM_011515111.1:c.173C>G	XP_011513413.1:p.Thr58Arg
XM_011515112.1:c.581C>G	XP_011513414.1:p.Thr194Arg
XM_011515105.2:c.581C>G	XP_011513407.1:p.Thr194Arg
XM_011515106.2:c.542C>G	XP_011513408.1:p.Thr181Arg
XM_011515107.2:c.356C>G	XP_011513409.1:p.Thr119Arg
XM_017011721.1:c.599C>G	XP_016867210.1:p.Thr200Arg
XM_017011722.1:c.374C>G	XP_016867211.1:p.Thr125Arg
NM_004067.4:c.278C>G MANE Select	NP_004058.1:p.Thr93Arg
NM_001293070.2:c.317C>G	NP_001279999.1:p.Thr106Arg
NM_001293071.2:c.173C>G	NP_001280000.1:p.Thr58Arg
NM_001293072.2:c.233C>G	NP_001280001.1:p.Thr78Arg
NM_001398427.1:c.-161C>G	NP_001385356.1:n.-161C>G