Canonical Allele Identifier: CA1697231321
Gene: CHN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398421C= , CM000669.2:g.29398421C= GRCh38
NC_000007.13:g.29438037C= , CM000669.1:g.29438037C= GRCh37
NC_000007.12:g.29404562C= NCBI36
NG_029365.2:g.256875C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.264C= ENSP00000386968.2:p.Gly88=
ENST00000439384.6:n.487C=
ENST00000446446.6:c.225C= ENSP00000396867.2:p.Gly75=
ENST00000706158.1:c.*169C= ENSP00000516236.1:n.*169C=
ENST00000706159.1:c.137C= ENSP00000516237.1:p.Ala46=
ENST00000706160.1:c.225C= ENSP00000516238.1:p.Gly75=
ENST00000706161.1:c.303C= ENSP00000516239.1:p.Gly101=
ENST00000706162.1:c.225C= ENSP00000516240.1:p.Gly75=
ENST00000706163.1:c.50-81858C= ENSP00000516241.1:n.50-81858C=
ENST00000222792.11:c.225C= MANE Select ENSP00000222792.7:p.Gly75=
ENST00000644824.1:c.450C= ENSP00000495614.1:p.Gly150=
ENST00000222792.10:c.225C= ENSP00000222792.6:p.Gly75=
ENST00000409350.5:c.264C= ENSP00000386968.1:p.Gly88=
ENST00000409922.5:n.436C=
ENST00000409964.6:n.424C=
ENST00000412536.5:n.245C=
ENST00000435288.6:c.168+4719C= ENSP00000400282.3:n.168+4719C=
ENST00000439384.5:c.450C= ENSP00000409843.1:p.Gly150=
ENST00000474070.5:c.325C=
ENST00000478128.6:n.319C=
ENST00000482820.6:n.434C=
ENST00000491856.1:n.1774C=
ENST00000495789.6:c.225C= ENSP00000438587.2:p.Gly75=
ENST00000539389.5:c.225C= ENSP00000440526.2:p.Gly75=
ENST00000539406.5:c.225C= ENSP00000444063.2:p.Gly75=
NM_001293069.1:c.450C= NP_001279998.1:p.Gly150=
NM_001293070.1:c.264C= NP_001279999.1:p.Gly88=
NM_001293071.1:c.120C= NP_001280000.1:p.Gly40=
NM_001293072.1:c.180C= NP_001280001.1:p.Gly60=
NM_004067.3:c.225C= NP_004058.1:p.Gly75=
XM_011515105.1:c.528C= XP_011513407.1:p.Gly176=
XM_011515106.1:c.489C= XP_011513408.1:p.Gly163=
XM_011515107.1:c.303C= XP_011513409.1:p.Gly101=
XM_011515108.1:c.225C= XP_011513410.1:p.Gly75=
XM_011515109.1:c.186C= XP_011513411.1:p.Gly62=
XM_011515110.1:c.147C= XP_011513412.1:p.Gly49=
XM_011515111.1:c.120C= XP_011513413.1:p.Gly40=
XM_011515112.1:c.528C= XP_011513414.1:p.Gly176=
XM_011515105.2:c.528C= XP_011513407.1:p.Gly176=
XM_011515106.2:c.489C= XP_011513408.1:p.Gly163=
XM_011515107.2:c.303C= XP_011513409.1:p.Gly101=
XM_017011721.1:c.546C= XP_016867210.1:p.Gly182=
XM_017011722.1:c.321C= XP_016867211.1:p.Gly107=
NM_004067.4:c.225C= MANE Select NP_004058.1:p.Gly75=
NM_001293070.2:c.264C= NP_001279999.1:p.Gly88=
NM_001293071.2:c.120C= NP_001280000.1:p.Gly40=
NM_001293072.2:c.180C= NP_001280001.1:p.Gly60=
NM_001398427.1:c.-214C= NP_001385356.1:n.-214C=