Canonical Allele Identifier: CA367241595

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29437999A>G (hg19) ; chr7:g.29398383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398383A>G , CM000669.2:g.29398383A>G	GRCh38
NC_000007.13:g.29437999A>G , CM000669.1:g.29437999A>G	GRCh37
NC_000007.12:g.29404524A>G	NCBI36
NG_029365.2:g.256837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.226A>G	ENSP00000386968.2:p.Ile76Val
ENST00000439384.6:n.449A>G
ENST00000446446.6:c.187A>G	ENSP00000396867.2:p.Ile63Val
ENST00000706158.1:c.*131A>G	ENSP00000516236.1:n.*131A>G
ENST00000706159.1:c.99A>G	ENSP00000516237.1:p.Gly33=
ENST00000706160.1:c.187A>G	ENSP00000516238.1:p.Ile63Val
ENST00000706161.1:c.265A>G	ENSP00000516239.1:p.Ile89Val
ENST00000706162.1:c.187A>G	ENSP00000516240.1:p.Ile63Val
ENST00000706163.1:c.50-81896A>G	ENSP00000516241.1:n.50-81896A>G
ENST00000222792.11:c.187A>G MANE Select	ENSP00000222792.7:p.Ile63Val
ENST00000644824.1:c.412A>G	ENSP00000495614.1:p.Ile138Val
ENST00000222792.10:c.187A>G	ENSP00000222792.6:p.Ile63Val
ENST00000409350.5:c.226A>G	ENSP00000386968.1:p.Ile76Val
ENST00000409922.5:n.398A>G
ENST00000409964.6:n.386A>G
ENST00000412536.5:n.207A>G
ENST00000435288.6:c.168+4681A>G	ENSP00000400282.3:n.168+4681A>G
ENST00000439384.5:c.412A>G	ENSP00000409843.1:p.Ile138Val
ENST00000474070.5:c.287A>G
ENST00000478128.6:n.281A>G
ENST00000482820.6:n.396A>G
ENST00000491856.1:n.1736A>G
ENST00000495789.6:c.187A>G	ENSP00000438587.2:p.Ile63Val
ENST00000539389.5:c.187A>G	ENSP00000440526.2:p.Ile63Val
ENST00000539406.5:c.187A>G	ENSP00000444063.2:p.Ile63Val
NM_001293069.1:c.412A>G	NP_001279998.1:p.Ile138Val
NM_001293070.1:c.226A>G	NP_001279999.1:p.Ile76Val
NM_001293071.1:c.82A>G	NP_001280000.1:p.Ile28Val
NM_001293072.1:c.142A>G	NP_001280001.1:p.Ile48Val
NM_004067.3:c.187A>G	NP_004058.1:p.Ile63Val
XM_011515105.1:c.490A>G	XP_011513407.1:p.Ile164Val
XM_011515106.1:c.451A>G	XP_011513408.1:p.Ile151Val
XM_011515107.1:c.265A>G	XP_011513409.1:p.Ile89Val
XM_011515108.1:c.187A>G	XP_011513410.1:p.Ile63Val
XM_011515109.1:c.148A>G	XP_011513411.1:p.Ile50Val
XM_011515110.1:c.109A>G	XP_011513412.1:p.Ile37Val
XM_011515111.1:c.82A>G	XP_011513413.1:p.Ile28Val
XM_011515112.1:c.490A>G	XP_011513414.1:p.Ile164Val
XM_011515105.2:c.490A>G	XP_011513407.1:p.Ile164Val
XM_011515106.2:c.451A>G	XP_011513408.1:p.Ile151Val
XM_011515107.2:c.265A>G	XP_011513409.1:p.Ile89Val
XM_017011721.1:c.508A>G	XP_016867210.1:p.Ile170Val
XM_017011722.1:c.283A>G	XP_016867211.1:p.Ile95Val
NM_004067.4:c.187A>G MANE Select	NP_004058.1:p.Ile63Val
NM_001293070.2:c.226A>G	NP_001279999.1:p.Ile76Val
NM_001293071.2:c.82A>G	NP_001280000.1:p.Ile28Val
NM_001293072.2:c.142A>G	NP_001280001.1:p.Ile48Val
NM_001398427.1:c.-252A>G	NP_001385356.1:n.-252A>G