Canonical Allele Identifier: CA367241658

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438029C>A (hg19) ; chr7:g.29398413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398413C>A , CM000669.2:g.29398413C>A	GRCh38
NC_000007.13:g.29438029C>A , CM000669.1:g.29438029C>A	GRCh37
NC_000007.12:g.29404554C>A	NCBI36
NG_029365.2:g.256867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.256C>A	ENSP00000386968.2:p.Leu86Ile
ENST00000439384.6:n.479C>A
ENST00000446446.6:c.217C>A	ENSP00000396867.2:p.Leu73Ile
ENST00000706158.1:c.*161C>A	ENSP00000516236.1:n.*161C>A
ENST00000706159.1:c.129C>A	ENSP00000516237.1:p.Phe43Leu
ENST00000706160.1:c.217C>A	ENSP00000516238.1:p.Leu73Ile
ENST00000706161.1:c.295C>A	ENSP00000516239.1:p.Leu99Ile
ENST00000706162.1:c.217C>A	ENSP00000516240.1:p.Leu73Ile
ENST00000706163.1:c.50-81866C>A	ENSP00000516241.1:n.50-81866C>A
ENST00000222792.11:c.217C>A MANE Select	ENSP00000222792.7:p.Leu73Ile
ENST00000644824.1:c.442C>A	ENSP00000495614.1:p.Leu148Ile
ENST00000222792.10:c.217C>A	ENSP00000222792.6:p.Leu73Ile
ENST00000409350.5:c.256C>A	ENSP00000386968.1:p.Leu86Ile
ENST00000409922.5:n.428C>A
ENST00000409964.6:n.416C>A
ENST00000412536.5:n.237C>A
ENST00000435288.6:c.168+4711C>A	ENSP00000400282.3:n.168+4711C>A
ENST00000439384.5:c.442C>A	ENSP00000409843.1:p.Leu148Ile
ENST00000474070.5:c.317C>A
ENST00000478128.6:n.311C>A
ENST00000482820.6:n.426C>A
ENST00000491856.1:n.1766C>A
ENST00000495789.6:c.217C>A	ENSP00000438587.2:p.Leu73Ile
ENST00000539389.5:c.217C>A	ENSP00000440526.2:p.Leu73Ile
ENST00000539406.5:c.217C>A	ENSP00000444063.2:p.Leu73Ile
NM_001293069.1:c.442C>A	NP_001279998.1:p.Leu148Ile
NM_001293070.1:c.256C>A	NP_001279999.1:p.Leu86Ile
NM_001293071.1:c.112C>A	NP_001280000.1:p.Leu38Ile
NM_001293072.1:c.172C>A	NP_001280001.1:p.Leu58Ile
NM_004067.3:c.217C>A	NP_004058.1:p.Leu73Ile
XM_011515105.1:c.520C>A	XP_011513407.1:p.Leu174Ile
XM_011515106.1:c.481C>A	XP_011513408.1:p.Leu161Ile
XM_011515107.1:c.295C>A	XP_011513409.1:p.Leu99Ile
XM_011515108.1:c.217C>A	XP_011513410.1:p.Leu73Ile
XM_011515109.1:c.178C>A	XP_011513411.1:p.Leu60Ile
XM_011515110.1:c.139C>A	XP_011513412.1:p.Leu47Ile
XM_011515111.1:c.112C>A	XP_011513413.1:p.Leu38Ile
XM_011515112.1:c.520C>A	XP_011513414.1:p.Leu174Ile
XM_011515105.2:c.520C>A	XP_011513407.1:p.Leu174Ile
XM_011515106.2:c.481C>A	XP_011513408.1:p.Leu161Ile
XM_011515107.2:c.295C>A	XP_011513409.1:p.Leu99Ile
XM_017011721.1:c.538C>A	XP_016867210.1:p.Leu180Ile
XM_017011722.1:c.313C>A	XP_016867211.1:p.Leu105Ile
NM_004067.4:c.217C>A MANE Select	NP_004058.1:p.Leu73Ile
NM_001293070.2:c.256C>A	NP_001279999.1:p.Leu86Ile
NM_001293071.2:c.112C>A	NP_001280000.1:p.Leu38Ile
NM_001293072.2:c.172C>A	NP_001280001.1:p.Leu58Ile
NM_001398427.1:c.-222C>A	NP_001385356.1:n.-222C>A