Canonical Allele Identifier: CA2578855344
Gene: CHN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398483_29398484del , CM000669.2:g.29398483_29398484del GRCh38
NC_000007.13:g.29438099_29438100del , CM000669.1:g.29438099_29438100del GRCh37
NC_000007.12:g.29404624_29404625del NCBI36
NG_029365.2:g.256937_256938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.326_327del ENSP00000386968.2:p.Leu109GlnfsTer21
ENST00000439384.6:n.549_550del
ENST00000446446.6:c.287_288del ENSP00000396867.2:p.Leu96GlnfsTer21
ENST00000706158.1:c.*231_*232del ENSP00000516236.1:n.*231_*232del
ENST00000706159.1:c.199_200del ENSP00000516237.1:p.Ser67ArgfsTer?
ENST00000706160.1:c.287_288del ENSP00000516238.1:p.Leu96GlnfsTer?
ENST00000706161.1:c.365_366del ENSP00000516239.1:p.Leu122GlnfsTer21
ENST00000706162.1:c.287_288del ENSP00000516240.1:p.Leu96GlnfsTer21
ENST00000706163.1:c.50-81796_50-81795del ENSP00000516241.1:n.50-81796_50-81795del
ENST00000222792.11:c.287_288del MANE Select ENSP00000222792.7:p.Leu96GlnfsTer21
ENST00000644824.1:c.512_513del ENSP00000495614.1:p.Leu171GlnfsTer21
ENST00000222792.10:c.287_288del ENSP00000222792.6:p.Leu96GlnfsTer21
ENST00000409350.5:c.326_327del ENSP00000386968.1:p.Leu109GlnfsTer21
ENST00000409922.5:n.498_499del
ENST00000409964.6:n.486_487del
ENST00000412536.5:n.307_308del
ENST00000435288.6:c.168+4781_168+4782del ENSP00000400282.3:n.168+4781_168+4782del
ENST00000439384.5:c.512_513del ENSP00000409843.1:p.Leu171GlnfsTer?
ENST00000474070.5:c.387_388del
ENST00000478128.6:n.381_382del
ENST00000482820.6:n.496_497del
ENST00000491856.1:n.1836_1837del
ENST00000495789.6:c.287_288del ENSP00000438587.2:p.Leu96GlnfsTer21
ENST00000539389.5:c.287_288del ENSP00000440526.2:p.Leu96GlnfsTer8
ENST00000539406.5:c.287_288del ENSP00000444063.2:p.Leu96GlnfsTer19
NM_001293069.1:c.512_513del NP_001279998.1:p.Leu171GlnfsTer21
NM_001293070.1:c.326_327del NP_001279999.1:p.Leu109GlnfsTer21
NM_001293071.1:c.182_183del NP_001280000.1:p.Leu61GlnfsTer21
NM_001293072.1:c.242_243del NP_001280001.1:p.Leu81GlnfsTer21
NM_004067.3:c.287_288del NP_004058.1:p.Leu96GlnfsTer21
XM_011515105.1:c.590_591del XP_011513407.1:p.Leu197GlnfsTer21
XM_011515106.1:c.551_552del XP_011513408.1:p.Leu184GlnfsTer21
XM_011515107.1:c.365_366del XP_011513409.1:p.Leu122GlnfsTer21
XM_011515108.1:c.287_288del XP_011513410.1:p.Leu96GlnfsTer21
XM_011515109.1:c.248_249del XP_011513411.1:p.Leu83GlnfsTer21
XM_011515110.1:c.209_210del XP_011513412.1:p.Leu70GlnfsTer21
XM_011515111.1:c.182_183del XP_011513413.1:p.Leu61GlnfsTer21
XM_011515112.1:c.590_591del XP_011513414.1:p.Leu197GlnfsTer21
XM_011515105.2:c.590_591del XP_011513407.1:p.Leu197GlnfsTer21
XM_011515106.2:c.551_552del XP_011513408.1:p.Leu184GlnfsTer21
XM_011515107.2:c.365_366del XP_011513409.1:p.Leu122GlnfsTer21
XM_017011721.1:c.608_609del XP_016867210.1:p.Leu203GlnfsTer21
XM_017011722.1:c.383_384del XP_016867211.1:p.Leu128GlnfsTer21
NM_004067.4:c.287_288del MANE Select NP_004058.1:p.Leu96GlnfsTer21
NM_001293070.2:c.326_327del NP_001279999.1:p.Leu109GlnfsTer21
NM_001293071.2:c.182_183del NP_001280000.1:p.Leu61GlnfsTer21
NM_001293072.2:c.242_243del NP_001280001.1:p.Leu81GlnfsTer21
NM_001398427.1:c.-152_-151del NP_001385356.1:n.-152_-151del