Canonical Allele Identifier: CA2774871225
Gene: CHN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398071_29398074del , CM000669.2:g.29398071_29398074del GRCh38
NC_000007.13:g.29437687_29437690del , CM000669.1:g.29437687_29437690del GRCh37
NC_000007.12:g.29404212_29404215del NCBI36
NG_029365.2:g.256525_256528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.216-302_216-299del ENSP00000386968.2:n.216-302_216-299del
ENST00000439384.6:n.439-302_439-299del
ENST00000446446.6:c.177-302_177-299del ENSP00000396867.2:n.177-302_177-299del
ENST00000706158.1:c.*121-302_*121-299del ENSP00000516236.1:n.*121-302_*121-299del
ENST00000706159.1:c.89-302_89-299del ENSP00000516237.1:n.89-302_89-299del
ENST00000706160.1:c.177-302_177-299del ENSP00000516238.1:n.177-302_177-299del
ENST00000706161.1:c.255-302_255-299del ENSP00000516239.1:n.255-302_255-299del
ENST00000706162.1:c.177-302_177-299del ENSP00000516240.1:n.177-302_177-299del
ENST00000706163.1:c.50-82208_50-82205del ENSP00000516241.1:n.50-82208_50-82205del
ENST00000222792.11:c.177-302_177-299del MANE Select ENSP00000222792.7:n.177-302_177-299del
ENST00000644824.1:c.402-302_402-299del ENSP00000495614.1:n.402-302_402-299del
ENST00000222792.10:c.177-302_177-299del ENSP00000222792.6:n.177-302_177-299del
ENST00000409350.5:c.216-302_216-299del ENSP00000386968.1:n.216-302_216-299del
ENST00000409922.5:n.388-302_388-299del
ENST00000409964.6:n.376-302_376-299del
ENST00000412536.5:n.197-302_197-299del
ENST00000435288.6:c.168+4369_168+4372del ENSP00000400282.3:n.168+4369_168+4372del
ENST00000439384.5:c.402-302_402-299del ENSP00000409843.1:n.402-302_402-299del
ENST00000474070.5:c.277-302_277-299del
ENST00000478128.6:n.271-302_271-299del
ENST00000482820.6:n.386-302_386-299del
ENST00000491856.1:n.1424_1427del
ENST00000495789.6:c.177-302_177-299del ENSP00000438587.2:n.177-302_177-299del
ENST00000539389.5:c.177-302_177-299del ENSP00000440526.2:n.177-302_177-299del
ENST00000539406.5:c.177-302_177-299del ENSP00000444063.2:n.177-302_177-299del
NM_001293069.1:c.402-302_402-299del NP_001279998.1:n.402-302_402-299del
NM_001293070.1:c.216-302_216-299del NP_001279999.1:n.216-302_216-299del
NM_001293071.1:c.72-302_72-299del NP_001280000.1:n.72-302_72-299del
NM_001293072.1:c.132-302_132-299del NP_001280001.1:n.132-302_132-299del
NM_004067.3:c.177-302_177-299del NP_004058.1:n.177-302_177-299del
XM_011515105.1:c.480-302_480-299del XP_011513407.1:n.480-302_480-299del
XM_011515106.1:c.441-302_441-299del XP_011513408.1:n.441-302_441-299del
XM_011515107.1:c.255-302_255-299del XP_011513409.1:n.255-302_255-299del
XM_011515108.1:c.177-302_177-299del XP_011513410.1:n.177-302_177-299del
XM_011515109.1:c.138-302_138-299del XP_011513411.1:n.138-302_138-299del
XM_011515110.1:c.99-302_99-299del XP_011513412.1:n.99-302_99-299del
XM_011515111.1:c.72-302_72-299del XP_011513413.1:n.72-302_72-299del
XM_011515112.1:c.480-302_480-299del XP_011513414.1:n.480-302_480-299del
XM_011515105.2:c.480-302_480-299del XP_011513407.1:n.480-302_480-299del
XM_011515106.2:c.441-302_441-299del XP_011513408.1:n.441-302_441-299del
XM_011515107.2:c.255-302_255-299del XP_011513409.1:n.255-302_255-299del
XM_017011721.1:c.498-302_498-299del XP_016867210.1:n.498-302_498-299del
XM_017011722.1:c.273-302_273-299del XP_016867211.1:n.273-302_273-299del
NM_004067.4:c.177-302_177-299del MANE Select NP_004058.1:n.177-302_177-299del
NM_001293070.2:c.216-302_216-299del NP_001279999.1:n.216-302_216-299del
NM_001293071.2:c.72-302_72-299del NP_001280000.1:n.72-302_72-299del
NM_001293072.2:c.132-302_132-299del NP_001280001.1:n.132-302_132-299del
NM_001398427.1:c.-262-302_-262-299del NP_001385356.1:n.-262-302_-262-299del