Canonical Allele Identifier: CA367241611
Gene: CHN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398392C>G , CM000669.2:g.29398392C>G GRCh38
NC_000007.13:g.29438008C>G , CM000669.1:g.29438008C>G GRCh37
NC_000007.12:g.29404533C>G NCBI36
NG_029365.2:g.256846C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.235C>G ENSP00000386968.2:p.Arg79Gly
ENST00000439384.6:n.458C>G
ENST00000446446.6:c.196C>G ENSP00000396867.2:p.Arg66Gly
ENST00000706158.1:c.*140C>G ENSP00000516236.1:n.*140C>G
ENST00000706159.1:c.108C>G ENSP00000516237.1:p.Leu36=
ENST00000706160.1:c.196C>G ENSP00000516238.1:p.Arg66Gly
ENST00000706161.1:c.274C>G ENSP00000516239.1:p.Arg92Gly
ENST00000706162.1:c.196C>G ENSP00000516240.1:p.Arg66Gly
ENST00000706163.1:c.50-81887C>G ENSP00000516241.1:n.50-81887C>G
ENST00000222792.11:c.196C>G MANE Select ENSP00000222792.7:p.Arg66Gly
ENST00000644824.1:c.421C>G ENSP00000495614.1:p.Arg141Gly
ENST00000222792.10:c.196C>G ENSP00000222792.6:p.Arg66Gly
ENST00000409350.5:c.235C>G ENSP00000386968.1:p.Arg79Gly
ENST00000409922.5:n.407C>G
ENST00000409964.6:n.395C>G
ENST00000412536.5:n.216C>G
ENST00000435288.6:c.168+4690C>G ENSP00000400282.3:n.168+4690C>G
ENST00000439384.5:c.421C>G ENSP00000409843.1:p.Arg141Gly
ENST00000474070.5:c.296C>G
ENST00000478128.6:n.290C>G
ENST00000482820.6:n.405C>G
ENST00000491856.1:n.1745C>G
ENST00000495789.6:c.196C>G ENSP00000438587.2:p.Arg66Gly
ENST00000539389.5:c.196C>G ENSP00000440526.2:p.Arg66Gly
ENST00000539406.5:c.196C>G ENSP00000444063.2:p.Arg66Gly
NM_001293069.1:c.421C>G NP_001279998.1:p.Arg141Gly
NM_001293070.1:c.235C>G NP_001279999.1:p.Arg79Gly
NM_001293071.1:c.91C>G NP_001280000.1:p.Arg31Gly
NM_001293072.1:c.151C>G NP_001280001.1:p.Arg51Gly
NM_004067.3:c.196C>G NP_004058.1:p.Arg66Gly
XM_011515105.1:c.499C>G XP_011513407.1:p.Arg167Gly
XM_011515106.1:c.460C>G XP_011513408.1:p.Arg154Gly
XM_011515107.1:c.274C>G XP_011513409.1:p.Arg92Gly
XM_011515108.1:c.196C>G XP_011513410.1:p.Arg66Gly
XM_011515109.1:c.157C>G XP_011513411.1:p.Arg53Gly
XM_011515110.1:c.118C>G XP_011513412.1:p.Arg40Gly
XM_011515111.1:c.91C>G XP_011513413.1:p.Arg31Gly
XM_011515112.1:c.499C>G XP_011513414.1:p.Arg167Gly
XM_011515105.2:c.499C>G XP_011513407.1:p.Arg167Gly
XM_011515106.2:c.460C>G XP_011513408.1:p.Arg154Gly
XM_011515107.2:c.274C>G XP_011513409.1:p.Arg92Gly
XM_017011721.1:c.517C>G XP_016867210.1:p.Arg173Gly
XM_017011722.1:c.292C>G XP_016867211.1:p.Arg98Gly
NM_004067.4:c.196C>G MANE Select NP_004058.1:p.Arg66Gly
NM_001293070.2:c.235C>G NP_001279999.1:p.Arg79Gly
NM_001293071.2:c.91C>G NP_001280000.1:p.Arg31Gly
NM_001293072.2:c.151C>G NP_001280001.1:p.Arg51Gly
NM_001398427.1:c.-243C>G NP_001385356.1:n.-243C>G