Canonical Allele Identifier: CA12501968
Gene: CHN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29472073T>C , CM000669.2:g.29472073T>C GRCh38
NC_000007.13:g.29511689T>C , CM000669.1:g.29511689T>C GRCh37
NC_000007.12:g.29478214T>C NCBI36
NG_029365.2:g.330527T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.616-8206T>C ENSP00000386968.2:n.616-8206T>C
ENST00000446446.6:c.577-23879T>C ENSP00000396867.2:n.577-23879T>C
ENST00000706158.1:c.*521-8206T>C ENSP00000516236.1:n.*521-8206T>C
ENST00000706159.1:c.*267-23879T>C ENSP00000516237.1:n.*267-23879T>C
ENST00000706160.1:c.291-8206T>C ENSP00000516238.1:n.291-8206T>C
ENST00000706161.1:c.655-8206T>C ENSP00000516239.1:n.655-8206T>C
ENST00000706162.1:c.577-8206T>C ENSP00000516240.1:n.577-8206T>C
ENST00000706163.1:c.50-8206T>C ENSP00000516241.1:n.50-8206T>C
ENST00000222792.11:c.577-8206T>C MANE Select ENSP00000222792.7:n.577-8206T>C
ENST00000644824.1:c.802-8206T>C ENSP00000495614.1:n.802-8206T>C
ENST00000222792.10:c.577-8206T>C ENSP00000222792.6:n.577-8206T>C
ENST00000435288.6:c.169-37299T>C ENSP00000400282.3:n.169-37299T>C
ENST00000446446.5:c.130-23879T>C ENSP00000396867.1:n.130-23879T>C
ENST00000474070.5:c.677-8206T>C
ENST00000495789.6:c.577-8206T>C ENSP00000438587.2:n.577-8206T>C
ENST00000539389.5:c.291-37226T>C ENSP00000440526.2:n.291-37226T>C
ENST00000539406.5:c.340-37296T>C ENSP00000444063.2:n.340-37296T>C
NM_001293069.1:c.802-8206T>C NP_001279998.1:n.802-8206T>C
NM_001293070.1:c.616-8206T>C NP_001279999.1:n.616-8206T>C
NM_001293071.1:c.472-8206T>C NP_001280000.1:n.472-8206T>C
NM_001293072.1:c.532-8206T>C NP_001280001.1:n.532-8206T>C
NM_004067.3:c.577-8206T>C NP_004058.1:n.577-8206T>C
XM_011515105.1:c.880-8206T>C XP_011513407.1:n.880-8206T>C
XM_011515106.1:c.841-8206T>C XP_011513408.1:n.841-8206T>C
XM_011515107.1:c.655-8206T>C XP_011513409.1:n.655-8206T>C
XM_011515108.1:c.577-8206T>C XP_011513410.1:n.577-8206T>C
XM_011515109.1:c.538-8206T>C XP_011513411.1:n.538-8206T>C
XM_011515110.1:c.499-8206T>C XP_011513412.1:n.499-8206T>C
XM_011515111.1:c.472-8206T>C XP_011513413.1:n.472-8206T>C
XM_011515105.2:c.880-8206T>C XP_011513407.1:n.880-8206T>C
XM_011515106.2:c.841-8206T>C XP_011513408.1:n.841-8206T>C
XM_011515107.2:c.655-8206T>C XP_011513409.1:n.655-8206T>C
XM_017011721.1:c.898-8206T>C XP_016867210.1:n.898-8206T>C
XM_017011722.1:c.673-8206T>C XP_016867211.1:n.673-8206T>C
NM_004067.4:c.577-8206T>C MANE Select NP_004058.1:n.577-8206T>C
NM_001293070.2:c.616-8206T>C NP_001279999.1:n.616-8206T>C
NM_001293071.2:c.472-8206T>C NP_001280000.1:n.472-8206T>C
NM_001293072.2:c.532-8206T>C NP_001280001.1:n.532-8206T>C
NM_001398427.1:c.139-8206T>C NP_001385356.1:n.139-8206T>C
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