Canonical Allele Identifier: CA367241604

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438004C>G (hg19) ; chr7:g.29398388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398388C>G , CM000669.2:g.29398388C>G	GRCh38
NC_000007.13:g.29438004C>G , CM000669.1:g.29438004C>G	GRCh37
NC_000007.12:g.29404529C>G	NCBI36
NG_029365.2:g.256842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.231C>G	ENSP00000386968.2:p.Ile77Met
ENST00000439384.6:n.454C>G
ENST00000446446.6:c.192C>G	ENSP00000396867.2:p.Ile64Met
ENST00000706158.1:c.*136C>G	ENSP00000516236.1:n.*136C>G
ENST00000706159.1:c.104C>G	ENSP00000516237.1:p.Ser35Cys
ENST00000706160.1:c.192C>G	ENSP00000516238.1:p.Ile64Met
ENST00000706161.1:c.270C>G	ENSP00000516239.1:p.Ile90Met
ENST00000706162.1:c.192C>G	ENSP00000516240.1:p.Ile64Met
ENST00000706163.1:c.50-81891C>G	ENSP00000516241.1:n.50-81891C>G
ENST00000222792.11:c.192C>G MANE Select	ENSP00000222792.7:p.Ile64Met
ENST00000644824.1:c.417C>G	ENSP00000495614.1:p.Ile139Met
ENST00000222792.10:c.192C>G	ENSP00000222792.6:p.Ile64Met
ENST00000409350.5:c.231C>G	ENSP00000386968.1:p.Ile77Met
ENST00000409922.5:n.403C>G
ENST00000409964.6:n.391C>G
ENST00000412536.5:n.212C>G
ENST00000435288.6:c.168+4686C>G	ENSP00000400282.3:n.168+4686C>G
ENST00000439384.5:c.417C>G	ENSP00000409843.1:p.Ile139Met
ENST00000474070.5:c.292C>G
ENST00000478128.6:n.286C>G
ENST00000482820.6:n.401C>G
ENST00000491856.1:n.1741C>G
ENST00000495789.6:c.192C>G	ENSP00000438587.2:p.Ile64Met
ENST00000539389.5:c.192C>G	ENSP00000440526.2:p.Ile64Met
ENST00000539406.5:c.192C>G	ENSP00000444063.2:p.Ile64Met
NM_001293069.1:c.417C>G	NP_001279998.1:p.Ile139Met
NM_001293070.1:c.231C>G	NP_001279999.1:p.Ile77Met
NM_001293071.1:c.87C>G	NP_001280000.1:p.Ile29Met
NM_001293072.1:c.147C>G	NP_001280001.1:p.Ile49Met
NM_004067.3:c.192C>G	NP_004058.1:p.Ile64Met
XM_011515105.1:c.495C>G	XP_011513407.1:p.Ile165Met
XM_011515106.1:c.456C>G	XP_011513408.1:p.Ile152Met
XM_011515107.1:c.270C>G	XP_011513409.1:p.Ile90Met
XM_011515108.1:c.192C>G	XP_011513410.1:p.Ile64Met
XM_011515109.1:c.153C>G	XP_011513411.1:p.Ile51Met
XM_011515110.1:c.114C>G	XP_011513412.1:p.Ile38Met
XM_011515111.1:c.87C>G	XP_011513413.1:p.Ile29Met
XM_011515112.1:c.495C>G	XP_011513414.1:p.Ile165Met
XM_011515105.2:c.495C>G	XP_011513407.1:p.Ile165Met
XM_011515106.2:c.456C>G	XP_011513408.1:p.Ile152Met
XM_011515107.2:c.270C>G	XP_011513409.1:p.Ile90Met
XM_017011721.1:c.513C>G	XP_016867210.1:p.Ile171Met
XM_017011722.1:c.288C>G	XP_016867211.1:p.Ile96Met
NM_004067.4:c.192C>G MANE Select	NP_004058.1:p.Ile64Met
NM_001293070.2:c.231C>G	NP_001279999.1:p.Ile77Met
NM_001293071.2:c.87C>G	NP_001280000.1:p.Ile29Met
NM_001293072.2:c.147C>G	NP_001280001.1:p.Ile49Met
NM_001398427.1:c.-247C>G	NP_001385356.1:n.-247C>G