Canonical Allele Identifier: CA367241712
Gene: CHN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398440C>G , CM000669.2:g.29398440C>G GRCh38
NC_000007.13:g.29438056C>G , CM000669.1:g.29438056C>G GRCh37
NC_000007.12:g.29404581C>G NCBI36
NG_029365.2:g.256894C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.283C>G ENSP00000386968.2:p.Leu95Val
ENST00000439384.6:n.506C>G
ENST00000446446.6:c.244C>G ENSP00000396867.2:p.Leu82Val
ENST00000706158.1:c.*188C>G ENSP00000516236.1:n.*188C>G
ENST00000706159.1:c.156C>G ENSP00000516237.1:p.Ser52=
ENST00000706160.1:c.244C>G ENSP00000516238.1:p.Leu82Val
ENST00000706161.1:c.322C>G ENSP00000516239.1:p.Leu108Val
ENST00000706162.1:c.244C>G ENSP00000516240.1:p.Leu82Val
ENST00000706163.1:c.50-81839C>G ENSP00000516241.1:n.50-81839C>G
ENST00000222792.11:c.244C>G MANE Select ENSP00000222792.7:p.Leu82Val
ENST00000644824.1:c.469C>G ENSP00000495614.1:p.Leu157Val
ENST00000222792.10:c.244C>G ENSP00000222792.6:p.Leu82Val
ENST00000409350.5:c.283C>G ENSP00000386968.1:p.Leu95Val
ENST00000409922.5:n.455C>G
ENST00000409964.6:n.443C>G
ENST00000412536.5:n.264C>G
ENST00000435288.6:c.168+4738C>G ENSP00000400282.3:n.168+4738C>G
ENST00000439384.5:c.469C>G ENSP00000409843.1:p.Leu157Val
ENST00000474070.5:c.344C>G
ENST00000478128.6:n.338C>G
ENST00000482820.6:n.453C>G
ENST00000491856.1:n.1793C>G
ENST00000495789.6:c.244C>G ENSP00000438587.2:p.Leu82Val
ENST00000539389.5:c.244C>G ENSP00000440526.2:p.Leu82Val
ENST00000539406.5:c.244C>G ENSP00000444063.2:p.Leu82Val
NM_001293069.1:c.469C>G NP_001279998.1:p.Leu157Val
NM_001293070.1:c.283C>G NP_001279999.1:p.Leu95Val
NM_001293071.1:c.139C>G NP_001280000.1:p.Leu47Val
NM_001293072.1:c.199C>G NP_001280001.1:p.Leu67Val
NM_004067.3:c.244C>G NP_004058.1:p.Leu82Val
XM_011515105.1:c.547C>G XP_011513407.1:p.Leu183Val
XM_011515106.1:c.508C>G XP_011513408.1:p.Leu170Val
XM_011515107.1:c.322C>G XP_011513409.1:p.Leu108Val
XM_011515108.1:c.244C>G XP_011513410.1:p.Leu82Val
XM_011515109.1:c.205C>G XP_011513411.1:p.Leu69Val
XM_011515110.1:c.166C>G XP_011513412.1:p.Leu56Val
XM_011515111.1:c.139C>G XP_011513413.1:p.Leu47Val
XM_011515112.1:c.547C>G XP_011513414.1:p.Leu183Val
XM_011515105.2:c.547C>G XP_011513407.1:p.Leu183Val
XM_011515106.2:c.508C>G XP_011513408.1:p.Leu170Val
XM_011515107.2:c.322C>G XP_011513409.1:p.Leu108Val
XM_017011721.1:c.565C>G XP_016867210.1:p.Leu189Val
XM_017011722.1:c.340C>G XP_016867211.1:p.Leu114Val
NM_004067.4:c.244C>G MANE Select NP_004058.1:p.Leu82Val
NM_001293070.2:c.283C>G NP_001279999.1:p.Leu95Val
NM_001293071.2:c.139C>G NP_001280000.1:p.Leu47Val
NM_001293072.2:c.199C>G NP_001280001.1:p.Leu67Val
NM_001398427.1:c.-195C>G NP_001385356.1:n.-195C>G