Canonical Allele Identifier: CA2714351961

Gene: CHN2

Linked Data

• dbSNP Id: rs2128082330

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398548_29398549del , CM000669.2:g.29398548_29398549del	GRCh38
NC_000007.13:g.29438164_29438165del , CM000669.1:g.29438164_29438165del	GRCh37
NC_000007.12:g.29404689_29404690del	NCBI36
NG_029365.2:g.257002_257003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.329+62_329+63del	ENSP00000386968.2:n.329+62_329+63del
ENST00000439384.6:n.552+62_552+63del
ENST00000446446.6:c.290+62_290+63del	ENSP00000396867.2:n.290+62_290+63del
ENST00000706158.1:c.*234+62_*234+63del	ENSP00000516236.1:n.*234+62_*234+63del
ENST00000706159.1:c.202+62_202+63del	ENSP00000516237.1:n.202+62_202+63del
ENST00000706160.1:c.290+62_290+63del	ENSP00000516238.1:n.290+62_290+63del
ENST00000706161.1:c.368+62_368+63del	ENSP00000516239.1:n.368+62_368+63del
ENST00000706162.1:c.290+62_290+63del	ENSP00000516240.1:n.290+62_290+63del
ENST00000706163.1:c.50-81731_50-81730del	ENSP00000516241.1:n.50-81731_50-81730del
ENST00000222792.11:c.290+62_290+63del MANE Select	ENSP00000222792.7:n.290+62_290+63del
ENST00000644824.1:c.515+62_515+63del	ENSP00000495614.1:n.515+62_515+63del
ENST00000222792.10:c.290+62_290+63del	ENSP00000222792.6:n.290+62_290+63del
ENST00000409350.5:c.329+62_329+63del	ENSP00000386968.1:n.329+62_329+63del
ENST00000409922.5:n.501+62_501+63del
ENST00000409964.6:n.489+62_489+63del
ENST00000412536.5:n.310+62_310+63del
ENST00000435288.6:c.168+4846_168+4847del	ENSP00000400282.3:n.168+4846_168+4847del
ENST00000439384.5:c.515+62_515+63del	ENSP00000409843.1:n.515+62_515+63del
ENST00000474070.5:c.390+62_390+63del
ENST00000478128.6:n.384+62_384+63del
ENST00000491856.1:n.1839+62_1839+63del
ENST00000495789.6:c.290+62_290+63del	ENSP00000438587.2:n.290+62_290+63del
ENST00000539389.5:c.290+62_290+63del	ENSP00000440526.2:n.290+62_290+63del
ENST00000539406.5:c.290+62_290+63del	ENSP00000444063.2:n.290+62_290+63del
NM_001293069.1:c.515+62_515+63del	NP_001279998.1:n.515+62_515+63del
NM_001293070.1:c.329+62_329+63del	NP_001279999.1:n.329+62_329+63del
NM_001293071.1:c.185+62_185+63del	NP_001280000.1:n.185+62_185+63del
NM_001293072.1:c.245+62_245+63del	NP_001280001.1:n.245+62_245+63del
NM_004067.3:c.290+62_290+63del	NP_004058.1:n.290+62_290+63del
XM_011515105.1:c.593+62_593+63del	XP_011513407.1:n.593+62_593+63del
XM_011515106.1:c.554+62_554+63del	XP_011513408.1:n.554+62_554+63del
XM_011515107.1:c.368+62_368+63del	XP_011513409.1:n.368+62_368+63del
XM_011515108.1:c.290+62_290+63del	XP_011513410.1:n.290+62_290+63del
XM_011515109.1:c.251+62_251+63del	XP_011513411.1:n.251+62_251+63del
XM_011515110.1:c.212+62_212+63del	XP_011513412.1:n.212+62_212+63del
XM_011515111.1:c.185+62_185+63del	XP_011513413.1:n.185+62_185+63del
XM_011515112.1:c.593+62_593+63del	XP_011513414.1:n.593+62_593+63del
XM_011515105.2:c.593+62_593+63del	XP_011513407.1:n.593+62_593+63del
XM_011515106.2:c.554+62_554+63del	XP_011513408.1:n.554+62_554+63del
XM_011515107.2:c.368+62_368+63del	XP_011513409.1:n.368+62_368+63del
XM_017011721.1:c.611+62_611+63del	XP_016867210.1:n.611+62_611+63del
XM_017011722.1:c.386+62_386+63del	XP_016867211.1:n.386+62_386+63del
NM_004067.4:c.290+62_290+63del MANE Select	NP_004058.1:n.290+62_290+63del
NM_001293070.2:c.329+62_329+63del	NP_001279999.1:n.329+62_329+63del
NM_001293071.2:c.185+62_185+63del	NP_001280000.1:n.185+62_185+63del
NM_001293072.2:c.245+62_245+63del	NP_001280001.1:n.245+62_245+63del
NM_001398427.1:c.-149+62_-149+63del	NP_001385356.1:n.-149+62_-149+63del