Canonical Allele Identifier: CA367241626

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438015A>C (hg19) ; chr7:g.29398399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398399A>C , CM000669.2:g.29398399A>C	GRCh38
NC_000007.13:g.29438015A>C , CM000669.1:g.29438015A>C	GRCh37
NC_000007.12:g.29404540A>C	NCBI36
NG_029365.2:g.256853A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.242A>C	ENSP00000386968.2:p.Gln81Pro
ENST00000439384.6:n.465A>C
ENST00000446446.6:c.203A>C	ENSP00000396867.2:p.Gln68Pro
ENST00000706158.1:c.*147A>C	ENSP00000516236.1:n.*147A>C
ENST00000706159.1:c.115A>C	ENSP00000516237.1:p.Arg39=
ENST00000706160.1:c.203A>C	ENSP00000516238.1:p.Gln68Pro
ENST00000706161.1:c.281A>C	ENSP00000516239.1:p.Gln94Pro
ENST00000706162.1:c.203A>C	ENSP00000516240.1:p.Gln68Pro
ENST00000706163.1:c.50-81880A>C	ENSP00000516241.1:n.50-81880A>C
ENST00000222792.11:c.203A>C MANE Select	ENSP00000222792.7:p.Gln68Pro
ENST00000644824.1:c.428A>C	ENSP00000495614.1:p.Gln143Pro
ENST00000222792.10:c.203A>C	ENSP00000222792.6:p.Gln68Pro
ENST00000409350.5:c.242A>C	ENSP00000386968.1:p.Gln81Pro
ENST00000409922.5:n.414A>C
ENST00000409964.6:n.402A>C
ENST00000412536.5:n.223A>C
ENST00000435288.6:c.168+4697A>C	ENSP00000400282.3:n.168+4697A>C
ENST00000439384.5:c.428A>C	ENSP00000409843.1:p.Gln143Pro
ENST00000474070.5:c.303A>C
ENST00000478128.6:n.297A>C
ENST00000482820.6:n.412A>C
ENST00000491856.1:n.1752A>C
ENST00000495789.6:c.203A>C	ENSP00000438587.2:p.Gln68Pro
ENST00000539389.5:c.203A>C	ENSP00000440526.2:p.Gln68Pro
ENST00000539406.5:c.203A>C	ENSP00000444063.2:p.Gln68Pro
NM_001293069.1:c.428A>C	NP_001279998.1:p.Gln143Pro
NM_001293070.1:c.242A>C	NP_001279999.1:p.Gln81Pro
NM_001293071.1:c.98A>C	NP_001280000.1:p.Gln33Pro
NM_001293072.1:c.158A>C	NP_001280001.1:p.Gln53Pro
NM_004067.3:c.203A>C	NP_004058.1:p.Gln68Pro
XM_011515105.1:c.506A>C	XP_011513407.1:p.Gln169Pro
XM_011515106.1:c.467A>C	XP_011513408.1:p.Gln156Pro
XM_011515107.1:c.281A>C	XP_011513409.1:p.Gln94Pro
XM_011515108.1:c.203A>C	XP_011513410.1:p.Gln68Pro
XM_011515109.1:c.164A>C	XP_011513411.1:p.Gln55Pro
XM_011515110.1:c.125A>C	XP_011513412.1:p.Gln42Pro
XM_011515111.1:c.98A>C	XP_011513413.1:p.Gln33Pro
XM_011515112.1:c.506A>C	XP_011513414.1:p.Gln169Pro
XM_011515105.2:c.506A>C	XP_011513407.1:p.Gln169Pro
XM_011515106.2:c.467A>C	XP_011513408.1:p.Gln156Pro
XM_011515107.2:c.281A>C	XP_011513409.1:p.Gln94Pro
XM_017011721.1:c.524A>C	XP_016867210.1:p.Gln175Pro
XM_017011722.1:c.299A>C	XP_016867211.1:p.Gln100Pro
NM_004067.4:c.203A>C MANE Select	NP_004058.1:p.Gln68Pro
NM_001293070.2:c.242A>C	NP_001279999.1:p.Gln81Pro
NM_001293071.2:c.98A>C	NP_001280000.1:p.Gln33Pro
NM_001293072.2:c.158A>C	NP_001280001.1:p.Gln53Pro
NM_001398427.1:c.-236A>C	NP_001385356.1:n.-236A>C