Canonical Allele Identifier: CA367241749
Gene: CHN2 HGNC NCBI

Linked Data

dbSNP Id: rs1454857779
gnomAD v2: 7-29438072-G-A
gnomAD v3: 7-29398456-G-A
gnomAD v4: 7-29398456-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398456G>A , CM000669.2:g.29398456G>A GRCh38
NC_000007.13:g.29438072G>A , CM000669.1:g.29438072G>A GRCh37
NC_000007.12:g.29404597G>A NCBI36
NG_029365.2:g.256910G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.299G>A ENSP00000386968.2:p.Arg100Gln
ENST00000439384.6:n.522G>A
ENST00000446446.6:c.260G>A ENSP00000396867.2:p.Arg87Gln
ENST00000706158.1:c.*204G>A ENSP00000516236.1:n.*204G>A
ENST00000706159.1:c.172G>A ENSP00000516237.1:p.Gly58Ser
ENST00000706160.1:c.260G>A ENSP00000516238.1:p.Arg87Gln
ENST00000706161.1:c.338G>A ENSP00000516239.1:p.Arg113Gln
ENST00000706162.1:c.260G>A ENSP00000516240.1:p.Arg87Gln
ENST00000706163.1:c.50-81823G>A ENSP00000516241.1:n.50-81823G>A
ENST00000222792.11:c.260G>A MANE Select ENSP00000222792.7:p.Arg87Gln
ENST00000644824.1:c.485G>A ENSP00000495614.1:p.Arg162Gln
ENST00000222792.10:c.260G>A ENSP00000222792.6:p.Arg87Gln
ENST00000409350.5:c.299G>A ENSP00000386968.1:p.Arg100Gln
ENST00000409922.5:n.471G>A
ENST00000409964.6:n.459G>A
ENST00000412536.5:n.280G>A
ENST00000435288.6:c.168+4754G>A ENSP00000400282.3:n.168+4754G>A
ENST00000439384.5:c.485G>A ENSP00000409843.1:p.Arg162Gln
ENST00000474070.5:c.360G>A
ENST00000478128.6:n.354G>A
ENST00000482820.6:n.469G>A
ENST00000491856.1:n.1809G>A
ENST00000495789.6:c.260G>A ENSP00000438587.2:p.Arg87Gln
ENST00000539389.5:c.260G>A ENSP00000440526.2:p.Arg87Gln
ENST00000539406.5:c.260G>A ENSP00000444063.2:p.Arg87Gln
NM_001293069.1:c.485G>A NP_001279998.1:p.Arg162Gln
NM_001293070.1:c.299G>A NP_001279999.1:p.Arg100Gln
NM_001293071.1:c.155G>A NP_001280000.1:p.Arg52Gln
NM_001293072.1:c.215G>A NP_001280001.1:p.Arg72Gln
NM_004067.3:c.260G>A NP_004058.1:p.Arg87Gln
XM_011515105.1:c.563G>A XP_011513407.1:p.Arg188Gln
XM_011515106.1:c.524G>A XP_011513408.1:p.Arg175Gln
XM_011515107.1:c.338G>A XP_011513409.1:p.Arg113Gln
XM_011515108.1:c.260G>A XP_011513410.1:p.Arg87Gln
XM_011515109.1:c.221G>A XP_011513411.1:p.Arg74Gln
XM_011515110.1:c.182G>A XP_011513412.1:p.Arg61Gln
XM_011515111.1:c.155G>A XP_011513413.1:p.Arg52Gln
XM_011515112.1:c.563G>A XP_011513414.1:p.Arg188Gln
XM_011515105.2:c.563G>A XP_011513407.1:p.Arg188Gln
XM_011515106.2:c.524G>A XP_011513408.1:p.Arg175Gln
XM_011515107.2:c.338G>A XP_011513409.1:p.Arg113Gln
XM_017011721.1:c.581G>A XP_016867210.1:p.Arg194Gln
XM_017011722.1:c.356G>A XP_016867211.1:p.Arg119Gln
NM_004067.4:c.260G>A MANE Select NP_004058.1:p.Arg87Gln
NM_001293070.2:c.299G>A NP_001279999.1:p.Arg100Gln
NM_001293071.2:c.155G>A NP_001280000.1:p.Arg52Gln
NM_001293072.2:c.215G>A NP_001280001.1:p.Arg72Gln
NM_001398427.1:c.-179G>A NP_001385356.1:n.-179G>A