Canonical Allele Identifier: CA454421590

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438034A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398418A>T , CM000669.2:g.29398418A>T	GRCh38
NC_000007.13:g.29438034A>T , CM000669.1:g.29438034A>T	GRCh37
NC_000007.12:g.29404559A>T	NCBI36
NG_029365.2:g.256872A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.261A>T	ENSP00000386968.2:p.Gly87=
ENST00000439384.6:n.484A>T
ENST00000446446.6:c.222A>T	ENSP00000396867.2:p.Gly74=
ENST00000706158.1:c.*166A>T	ENSP00000516236.1:n.*166A>T
ENST00000706159.1:c.134A>T	ENSP00000516237.1:p.Glu45Val
ENST00000706160.1:c.222A>T	ENSP00000516238.1:p.Gly74=
ENST00000706161.1:c.300A>T	ENSP00000516239.1:p.Gly100=
ENST00000706162.1:c.222A>T	ENSP00000516240.1:p.Gly74=
ENST00000706163.1:c.50-81861A>T	ENSP00000516241.1:n.50-81861A>T
ENST00000222792.11:c.222A>T MANE Select	ENSP00000222792.7:p.Gly74=
ENST00000644824.1:c.447A>T	ENSP00000495614.1:p.Gly149=
ENST00000222792.10:c.222A>T	ENSP00000222792.6:p.Gly74=
ENST00000409350.5:c.261A>T	ENSP00000386968.1:p.Gly87=
ENST00000409922.5:n.433A>T
ENST00000409964.6:n.421A>T
ENST00000412536.5:n.242A>T
ENST00000435288.6:c.168+4716A>T	ENSP00000400282.3:n.168+4716A>T
ENST00000439384.5:c.447A>T	ENSP00000409843.1:p.Gly149=
ENST00000474070.5:c.322A>T
ENST00000478128.6:n.316A>T
ENST00000482820.6:n.431A>T
ENST00000491856.1:n.1771A>T
ENST00000495789.6:c.222A>T	ENSP00000438587.2:p.Gly74=
ENST00000539389.5:c.222A>T	ENSP00000440526.2:p.Gly74=
ENST00000539406.5:c.222A>T	ENSP00000444063.2:p.Gly74=
NM_001293069.1:c.447A>T	NP_001279998.1:p.Gly149=
NM_001293070.1:c.261A>T	NP_001279999.1:p.Gly87=
NM_001293071.1:c.117A>T	NP_001280000.1:p.Gly39=
NM_001293072.1:c.177A>T	NP_001280001.1:p.Gly59=
NM_004067.3:c.222A>T	NP_004058.1:p.Gly74=
XM_011515105.1:c.525A>T	XP_011513407.1:p.Gly175=
XM_011515106.1:c.486A>T	XP_011513408.1:p.Gly162=
XM_011515107.1:c.300A>T	XP_011513409.1:p.Gly100=
XM_011515108.1:c.222A>T	XP_011513410.1:p.Gly74=
XM_011515109.1:c.183A>T	XP_011513411.1:p.Gly61=
XM_011515110.1:c.144A>T	XP_011513412.1:p.Gly48=
XM_011515111.1:c.117A>T	XP_011513413.1:p.Gly39=
XM_011515112.1:c.525A>T	XP_011513414.1:p.Gly175=
XM_011515105.2:c.525A>T	XP_011513407.1:p.Gly175=
XM_011515106.2:c.486A>T	XP_011513408.1:p.Gly162=
XM_011515107.2:c.300A>T	XP_011513409.1:p.Gly100=
XM_017011721.1:c.543A>T	XP_016867210.1:p.Gly181=
XM_017011722.1:c.318A>T	XP_016867211.1:p.Gly106=
NM_004067.4:c.222A>T MANE Select	NP_004058.1:p.Gly74=
NM_001293070.2:c.261A>T	NP_001279999.1:p.Gly87=
NM_001293071.2:c.117A>T	NP_001280000.1:p.Gly39=
NM_001293072.2:c.177A>T	NP_001280001.1:p.Gly59=
NM_001398427.1:c.-217A>T	NP_001385356.1:n.-217A>T