Canonical Allele Identifier: CA837393273
Gene: CHN2 HGNC NCBI

Linked Data

dbSNP Id: rs1474747152
gnomAD v3: 7-29398140-A-G
gnomAD v4: 7-29398140-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398140A>G , CM000669.2:g.29398140A>G GRCh38
NC_000007.13:g.29437756A>G , CM000669.1:g.29437756A>G GRCh37
NC_000007.12:g.29404281A>G NCBI36
NG_029365.2:g.256594A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.216-233A>G ENSP00000386968.2:n.216-233A>G
ENST00000439384.6:n.439-233A>G
ENST00000446446.6:c.177-233A>G ENSP00000396867.2:n.177-233A>G
ENST00000706158.1:c.*121-233A>G ENSP00000516236.1:n.*121-233A>G
ENST00000706159.1:c.89-233A>G ENSP00000516237.1:n.89-233A>G
ENST00000706160.1:c.177-233A>G ENSP00000516238.1:n.177-233A>G
ENST00000706161.1:c.255-233A>G ENSP00000516239.1:n.255-233A>G
ENST00000706162.1:c.177-233A>G ENSP00000516240.1:n.177-233A>G
ENST00000706163.1:c.50-82139A>G ENSP00000516241.1:n.50-82139A>G
ENST00000222792.11:c.177-233A>G MANE Select ENSP00000222792.7:n.177-233A>G
ENST00000644824.1:c.402-233A>G ENSP00000495614.1:n.402-233A>G
ENST00000222792.10:c.177-233A>G ENSP00000222792.6:n.177-233A>G
ENST00000409350.5:c.216-233A>G ENSP00000386968.1:n.216-233A>G
ENST00000409922.5:n.388-233A>G
ENST00000409964.6:n.376-233A>G
ENST00000412536.5:n.197-233A>G
ENST00000435288.6:c.168+4438A>G ENSP00000400282.3:n.168+4438A>G
ENST00000439384.5:c.402-233A>G ENSP00000409843.1:n.402-233A>G
ENST00000474070.5:c.277-233A>G
ENST00000478128.6:n.271-233A>G
ENST00000482820.6:n.386-233A>G
ENST00000491856.1:n.1493A>G
ENST00000495789.6:c.177-233A>G ENSP00000438587.2:n.177-233A>G
ENST00000539389.5:c.177-233A>G ENSP00000440526.2:n.177-233A>G
ENST00000539406.5:c.177-233A>G ENSP00000444063.2:n.177-233A>G
NM_001293069.1:c.402-233A>G NP_001279998.1:n.402-233A>G
NM_001293070.1:c.216-233A>G NP_001279999.1:n.216-233A>G
NM_001293071.1:c.72-233A>G NP_001280000.1:n.72-233A>G
NM_001293072.1:c.132-233A>G NP_001280001.1:n.132-233A>G
NM_004067.3:c.177-233A>G NP_004058.1:n.177-233A>G
XM_011515105.1:c.480-233A>G XP_011513407.1:n.480-233A>G
XM_011515106.1:c.441-233A>G XP_011513408.1:n.441-233A>G
XM_011515107.1:c.255-233A>G XP_011513409.1:n.255-233A>G
XM_011515108.1:c.177-233A>G XP_011513410.1:n.177-233A>G
XM_011515109.1:c.138-233A>G XP_011513411.1:n.138-233A>G
XM_011515110.1:c.99-233A>G XP_011513412.1:n.99-233A>G
XM_011515111.1:c.72-233A>G XP_011513413.1:n.72-233A>G
XM_011515112.1:c.480-233A>G XP_011513414.1:n.480-233A>G
XM_011515105.2:c.480-233A>G XP_011513407.1:n.480-233A>G
XM_011515106.2:c.441-233A>G XP_011513408.1:n.441-233A>G
XM_011515107.2:c.255-233A>G XP_011513409.1:n.255-233A>G
XM_017011721.1:c.498-233A>G XP_016867210.1:n.498-233A>G
XM_017011722.1:c.273-233A>G XP_016867211.1:n.273-233A>G
NM_004067.4:c.177-233A>G MANE Select NP_004058.1:n.177-233A>G
NM_001293070.2:c.216-233A>G NP_001279999.1:n.216-233A>G
NM_001293071.2:c.72-233A>G NP_001280000.1:n.72-233A>G
NM_001293072.2:c.132-233A>G NP_001280001.1:n.132-233A>G
NM_001398427.1:c.-262-233A>G NP_001385356.1:n.-262-233A>G