Canonical Allele Identifier: CA367241710

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438055C>G (hg19) ; chr7:g.29398439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398439C>G , CM000669.2:g.29398439C>G	GRCh38
NC_000007.13:g.29438055C>G , CM000669.1:g.29438055C>G	GRCh37
NC_000007.12:g.29404580C>G	NCBI36
NG_029365.2:g.256893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.282C>G	ENSP00000386968.2:p.Ile94Met
ENST00000439384.6:n.505C>G
ENST00000446446.6:c.243C>G	ENSP00000396867.2:p.Ile81Met
ENST00000706158.1:c.*187C>G	ENSP00000516236.1:n.*187C>G
ENST00000706159.1:c.155C>G	ENSP00000516237.1:p.Ser52Cys
ENST00000706160.1:c.243C>G	ENSP00000516238.1:p.Ile81Met
ENST00000706161.1:c.321C>G	ENSP00000516239.1:p.Ile107Met
ENST00000706162.1:c.243C>G	ENSP00000516240.1:p.Ile81Met
ENST00000706163.1:c.50-81840C>G	ENSP00000516241.1:n.50-81840C>G
ENST00000222792.11:c.243C>G MANE Select	ENSP00000222792.7:p.Ile81Met
ENST00000644824.1:c.468C>G	ENSP00000495614.1:p.Ile156Met
ENST00000222792.10:c.243C>G	ENSP00000222792.6:p.Ile81Met
ENST00000409350.5:c.282C>G	ENSP00000386968.1:p.Ile94Met
ENST00000409922.5:n.454C>G
ENST00000409964.6:n.442C>G
ENST00000412536.5:n.263C>G
ENST00000435288.6:c.168+4737C>G	ENSP00000400282.3:n.168+4737C>G
ENST00000439384.5:c.468C>G	ENSP00000409843.1:p.Ile156Met
ENST00000474070.5:c.343C>G
ENST00000478128.6:n.337C>G
ENST00000482820.6:n.452C>G
ENST00000491856.1:n.1792C>G
ENST00000495789.6:c.243C>G	ENSP00000438587.2:p.Ile81Met
ENST00000539389.5:c.243C>G	ENSP00000440526.2:p.Ile81Met
ENST00000539406.5:c.243C>G	ENSP00000444063.2:p.Ile81Met
NM_001293069.1:c.468C>G	NP_001279998.1:p.Ile156Met
NM_001293070.1:c.282C>G	NP_001279999.1:p.Ile94Met
NM_001293071.1:c.138C>G	NP_001280000.1:p.Ile46Met
NM_001293072.1:c.198C>G	NP_001280001.1:p.Ile66Met
NM_004067.3:c.243C>G	NP_004058.1:p.Ile81Met
XM_011515105.1:c.546C>G	XP_011513407.1:p.Ile182Met
XM_011515106.1:c.507C>G	XP_011513408.1:p.Ile169Met
XM_011515107.1:c.321C>G	XP_011513409.1:p.Ile107Met
XM_011515108.1:c.243C>G	XP_011513410.1:p.Ile81Met
XM_011515109.1:c.204C>G	XP_011513411.1:p.Ile68Met
XM_011515110.1:c.165C>G	XP_011513412.1:p.Ile55Met
XM_011515111.1:c.138C>G	XP_011513413.1:p.Ile46Met
XM_011515112.1:c.546C>G	XP_011513414.1:p.Ile182Met
XM_011515105.2:c.546C>G	XP_011513407.1:p.Ile182Met
XM_011515106.2:c.507C>G	XP_011513408.1:p.Ile169Met
XM_011515107.2:c.321C>G	XP_011513409.1:p.Ile107Met
XM_017011721.1:c.564C>G	XP_016867210.1:p.Ile188Met
XM_017011722.1:c.339C>G	XP_016867211.1:p.Ile113Met
NM_004067.4:c.243C>G MANE Select	NP_004058.1:p.Ile81Met
NM_001293070.2:c.282C>G	NP_001279999.1:p.Ile94Met
NM_001293071.2:c.138C>G	NP_001280000.1:p.Ile46Met
NM_001293072.2:c.198C>G	NP_001280001.1:p.Ile66Met
NM_001398427.1:c.-196C>G	NP_001385356.1:n.-196C>G