Canonical Allele Identifier: CA454421572

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438007T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398391T>G , CM000669.2:g.29398391T>G	GRCh38
NC_000007.13:g.29438007T>G , CM000669.1:g.29438007T>G	GRCh37
NC_000007.12:g.29404532T>G	NCBI36
NG_029365.2:g.256845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.234T>G	ENSP00000386968.2:p.Ser78=
ENST00000439384.6:n.457T>G
ENST00000446446.6:c.195T>G	ENSP00000396867.2:p.Ser65=
ENST00000706158.1:c.*139T>G	ENSP00000516236.1:n.*139T>G
ENST00000706159.1:c.107T>G	ENSP00000516237.1:p.Leu36Arg
ENST00000706160.1:c.195T>G	ENSP00000516238.1:p.Ser65=
ENST00000706161.1:c.273T>G	ENSP00000516239.1:p.Ser91=
ENST00000706162.1:c.195T>G	ENSP00000516240.1:p.Ser65=
ENST00000706163.1:c.50-81888T>G	ENSP00000516241.1:n.50-81888T>G
ENST00000222792.11:c.195T>G MANE Select	ENSP00000222792.7:p.Ser65=
ENST00000644824.1:c.420T>G	ENSP00000495614.1:p.Ser140=
ENST00000222792.10:c.195T>G	ENSP00000222792.6:p.Ser65=
ENST00000409350.5:c.234T>G	ENSP00000386968.1:p.Ser78=
ENST00000409922.5:n.406T>G
ENST00000409964.6:n.394T>G
ENST00000412536.5:n.215T>G
ENST00000435288.6:c.168+4689T>G	ENSP00000400282.3:n.168+4689T>G
ENST00000439384.5:c.420T>G	ENSP00000409843.1:p.Ser140=
ENST00000474070.5:c.295T>G
ENST00000478128.6:n.289T>G
ENST00000482820.6:n.404T>G
ENST00000491856.1:n.1744T>G
ENST00000495789.6:c.195T>G	ENSP00000438587.2:p.Ser65=
ENST00000539389.5:c.195T>G	ENSP00000440526.2:p.Ser65=
ENST00000539406.5:c.195T>G	ENSP00000444063.2:p.Ser65=
NM_001293069.1:c.420T>G	NP_001279998.1:p.Ser140=
NM_001293070.1:c.234T>G	NP_001279999.1:p.Ser78=
NM_001293071.1:c.90T>G	NP_001280000.1:p.Ser30=
NM_001293072.1:c.150T>G	NP_001280001.1:p.Ser50=
NM_004067.3:c.195T>G	NP_004058.1:p.Ser65=
XM_011515105.1:c.498T>G	XP_011513407.1:p.Ser166=
XM_011515106.1:c.459T>G	XP_011513408.1:p.Ser153=
XM_011515107.1:c.273T>G	XP_011513409.1:p.Ser91=
XM_011515108.1:c.195T>G	XP_011513410.1:p.Ser65=
XM_011515109.1:c.156T>G	XP_011513411.1:p.Ser52=
XM_011515110.1:c.117T>G	XP_011513412.1:p.Ser39=
XM_011515111.1:c.90T>G	XP_011513413.1:p.Ser30=
XM_011515112.1:c.498T>G	XP_011513414.1:p.Ser166=
XM_011515105.2:c.498T>G	XP_011513407.1:p.Ser166=
XM_011515106.2:c.459T>G	XP_011513408.1:p.Ser153=
XM_011515107.2:c.273T>G	XP_011513409.1:p.Ser91=
XM_017011721.1:c.516T>G	XP_016867210.1:p.Ser172=
XM_017011722.1:c.291T>G	XP_016867211.1:p.Ser97=
NM_004067.4:c.195T>G MANE Select	NP_004058.1:p.Ser65=
NM_001293070.2:c.234T>G	NP_001279999.1:p.Ser78=
NM_001293071.2:c.90T>G	NP_001280000.1:p.Ser30=
NM_001293072.2:c.150T>G	NP_001280001.1:p.Ser50=
NM_001398427.1:c.-244T>G	NP_001385356.1:n.-244T>G