Canonical Allele Identifier: CA367241600

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438002A>G (hg19) ; chr7:g.29398386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398386A>G , CM000669.2:g.29398386A>G	GRCh38
NC_000007.13:g.29438002A>G , CM000669.1:g.29438002A>G	GRCh37
NC_000007.12:g.29404527A>G	NCBI36
NG_029365.2:g.256840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.229A>G	ENSP00000386968.2:p.Ile77Val
ENST00000439384.6:n.452A>G
ENST00000446446.6:c.190A>G	ENSP00000396867.2:p.Ile64Val
ENST00000706158.1:c.*134A>G	ENSP00000516236.1:n.*134A>G
ENST00000706159.1:c.102A>G	ENSP00000516237.1:p.Ser34=
ENST00000706160.1:c.190A>G	ENSP00000516238.1:p.Ile64Val
ENST00000706161.1:c.268A>G	ENSP00000516239.1:p.Ile90Val
ENST00000706162.1:c.190A>G	ENSP00000516240.1:p.Ile64Val
ENST00000706163.1:c.50-81893A>G	ENSP00000516241.1:n.50-81893A>G
ENST00000222792.11:c.190A>G MANE Select	ENSP00000222792.7:p.Ile64Val
ENST00000644824.1:c.415A>G	ENSP00000495614.1:p.Ile139Val
ENST00000222792.10:c.190A>G	ENSP00000222792.6:p.Ile64Val
ENST00000409350.5:c.229A>G	ENSP00000386968.1:p.Ile77Val
ENST00000409922.5:n.401A>G
ENST00000409964.6:n.389A>G
ENST00000412536.5:n.210A>G
ENST00000435288.6:c.168+4684A>G	ENSP00000400282.3:n.168+4684A>G
ENST00000439384.5:c.415A>G	ENSP00000409843.1:p.Ile139Val
ENST00000474070.5:c.290A>G
ENST00000478128.6:n.284A>G
ENST00000482820.6:n.399A>G
ENST00000491856.1:n.1739A>G
ENST00000495789.6:c.190A>G	ENSP00000438587.2:p.Ile64Val
ENST00000539389.5:c.190A>G	ENSP00000440526.2:p.Ile64Val
ENST00000539406.5:c.190A>G	ENSP00000444063.2:p.Ile64Val
NM_001293069.1:c.415A>G	NP_001279998.1:p.Ile139Val
NM_001293070.1:c.229A>G	NP_001279999.1:p.Ile77Val
NM_001293071.1:c.85A>G	NP_001280000.1:p.Ile29Val
NM_001293072.1:c.145A>G	NP_001280001.1:p.Ile49Val
NM_004067.3:c.190A>G	NP_004058.1:p.Ile64Val
XM_011515105.1:c.493A>G	XP_011513407.1:p.Ile165Val
XM_011515106.1:c.454A>G	XP_011513408.1:p.Ile152Val
XM_011515107.1:c.268A>G	XP_011513409.1:p.Ile90Val
XM_011515108.1:c.190A>G	XP_011513410.1:p.Ile64Val
XM_011515109.1:c.151A>G	XP_011513411.1:p.Ile51Val
XM_011515110.1:c.112A>G	XP_011513412.1:p.Ile38Val
XM_011515111.1:c.85A>G	XP_011513413.1:p.Ile29Val
XM_011515112.1:c.493A>G	XP_011513414.1:p.Ile165Val
XM_011515105.2:c.493A>G	XP_011513407.1:p.Ile165Val
XM_011515106.2:c.454A>G	XP_011513408.1:p.Ile152Val
XM_011515107.2:c.268A>G	XP_011513409.1:p.Ile90Val
XM_017011721.1:c.511A>G	XP_016867210.1:p.Ile171Val
XM_017011722.1:c.286A>G	XP_016867211.1:p.Ile96Val
NM_004067.4:c.190A>G MANE Select	NP_004058.1:p.Ile64Val
NM_001293070.2:c.229A>G	NP_001279999.1:p.Ile77Val
NM_001293071.2:c.85A>G	NP_001280000.1:p.Ile29Val
NM_001293072.2:c.145A>G	NP_001280001.1:p.Ile49Val
NM_001398427.1:c.-249A>G	NP_001385356.1:n.-249A>G