Canonical Allele Identifier: CA367241719

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438060G>A (hg19) ; chr7:g.29398444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398444G>A , CM000669.2:g.29398444G>A	GRCh38
NC_000007.13:g.29438060G>A , CM000669.1:g.29438060G>A	GRCh37
NC_000007.12:g.29404585G>A	NCBI36
NG_029365.2:g.256898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.287G>A	ENSP00000386968.2:p.Arg96Lys
ENST00000439384.6:n.510G>A
ENST00000446446.6:c.248G>A	ENSP00000396867.2:p.Arg83Lys
ENST00000706158.1:c.*192G>A	ENSP00000516236.1:n.*192G>A
ENST00000706159.1:c.160G>A	ENSP00000516237.1:p.Glu54Lys
ENST00000706160.1:c.248G>A	ENSP00000516238.1:p.Arg83Lys
ENST00000706161.1:c.326G>A	ENSP00000516239.1:p.Arg109Lys
ENST00000706162.1:c.248G>A	ENSP00000516240.1:p.Arg83Lys
ENST00000706163.1:c.50-81835G>A	ENSP00000516241.1:n.50-81835G>A
ENST00000222792.11:c.248G>A MANE Select	ENSP00000222792.7:p.Arg83Lys
ENST00000644824.1:c.473G>A	ENSP00000495614.1:p.Arg158Lys
ENST00000222792.10:c.248G>A	ENSP00000222792.6:p.Arg83Lys
ENST00000409350.5:c.287G>A	ENSP00000386968.1:p.Arg96Lys
ENST00000409922.5:n.459G>A
ENST00000409964.6:n.447G>A
ENST00000412536.5:n.268G>A
ENST00000435288.6:c.168+4742G>A	ENSP00000400282.3:n.168+4742G>A
ENST00000439384.5:c.473G>A	ENSP00000409843.1:p.Arg158Lys
ENST00000474070.5:c.348G>A
ENST00000478128.6:n.342G>A
ENST00000482820.6:n.457G>A
ENST00000491856.1:n.1797G>A
ENST00000495789.6:c.248G>A	ENSP00000438587.2:p.Arg83Lys
ENST00000539389.5:c.248G>A	ENSP00000440526.2:p.Arg83Lys
ENST00000539406.5:c.248G>A	ENSP00000444063.2:p.Arg83Lys
NM_001293069.1:c.473G>A	NP_001279998.1:p.Arg158Lys
NM_001293070.1:c.287G>A	NP_001279999.1:p.Arg96Lys
NM_001293071.1:c.143G>A	NP_001280000.1:p.Arg48Lys
NM_001293072.1:c.203G>A	NP_001280001.1:p.Arg68Lys
NM_004067.3:c.248G>A	NP_004058.1:p.Arg83Lys
XM_011515105.1:c.551G>A	XP_011513407.1:p.Arg184Lys
XM_011515106.1:c.512G>A	XP_011513408.1:p.Arg171Lys
XM_011515107.1:c.326G>A	XP_011513409.1:p.Arg109Lys
XM_011515108.1:c.248G>A	XP_011513410.1:p.Arg83Lys
XM_011515109.1:c.209G>A	XP_011513411.1:p.Arg70Lys
XM_011515110.1:c.170G>A	XP_011513412.1:p.Arg57Lys
XM_011515111.1:c.143G>A	XP_011513413.1:p.Arg48Lys
XM_011515112.1:c.551G>A	XP_011513414.1:p.Arg184Lys
XM_011515105.2:c.551G>A	XP_011513407.1:p.Arg184Lys
XM_011515106.2:c.512G>A	XP_011513408.1:p.Arg171Lys
XM_011515107.2:c.326G>A	XP_011513409.1:p.Arg109Lys
XM_017011721.1:c.569G>A	XP_016867210.1:p.Arg190Lys
XM_017011722.1:c.344G>A	XP_016867211.1:p.Arg115Lys
NM_004067.4:c.248G>A MANE Select	NP_004058.1:p.Arg83Lys
NM_001293070.2:c.287G>A	NP_001279999.1:p.Arg96Lys
NM_001293071.2:c.143G>A	NP_001280000.1:p.Arg48Lys
NM_001293072.2:c.203G>A	NP_001280001.1:p.Arg68Lys
NM_001398427.1:c.-191G>A	NP_001385356.1:n.-191G>A