Canonical Allele Identifier: CA367241752

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398458-C-A
• MyVariant Identifiers: chr7:g.29438074C>A (hg19) ; chr7:g.29398458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398458C>A , CM000669.2:g.29398458C>A	GRCh38
NC_000007.13:g.29438074C>A , CM000669.1:g.29438074C>A	GRCh37
NC_000007.12:g.29404599C>A	NCBI36
NG_029365.2:g.256912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.301C>A	ENSP00000386968.2:p.Gln101Lys
ENST00000439384.6:n.524C>A
ENST00000446446.6:c.262C>A	ENSP00000396867.2:p.Gln88Lys
ENST00000706158.1:c.*206C>A	ENSP00000516236.1:n.*206C>A
ENST00000706159.1:c.174C>A	ENSP00000516237.1:p.Gly58=
ENST00000706160.1:c.262C>A	ENSP00000516238.1:p.Gln88Lys
ENST00000706161.1:c.340C>A	ENSP00000516239.1:p.Gln114Lys
ENST00000706162.1:c.262C>A	ENSP00000516240.1:p.Gln88Lys
ENST00000706163.1:c.50-81821C>A	ENSP00000516241.1:n.50-81821C>A
ENST00000222792.11:c.262C>A MANE Select	ENSP00000222792.7:p.Gln88Lys
ENST00000644824.1:c.487C>A	ENSP00000495614.1:p.Gln163Lys
ENST00000222792.10:c.262C>A	ENSP00000222792.6:p.Gln88Lys
ENST00000409350.5:c.301C>A	ENSP00000386968.1:p.Gln101Lys
ENST00000409922.5:n.473C>A
ENST00000409964.6:n.461C>A
ENST00000412536.5:n.282C>A
ENST00000435288.6:c.168+4756C>A	ENSP00000400282.3:n.168+4756C>A
ENST00000439384.5:c.487C>A	ENSP00000409843.1:p.Gln163Lys
ENST00000474070.5:c.362C>A
ENST00000478128.6:n.356C>A
ENST00000482820.6:n.471C>A
ENST00000491856.1:n.1811C>A
ENST00000495789.6:c.262C>A	ENSP00000438587.2:p.Gln88Lys
ENST00000539389.5:c.262C>A	ENSP00000440526.2:p.Gln88Lys
ENST00000539406.5:c.262C>A	ENSP00000444063.2:p.Gln88Lys
NM_001293069.1:c.487C>A	NP_001279998.1:p.Gln163Lys
NM_001293070.1:c.301C>A	NP_001279999.1:p.Gln101Lys
NM_001293071.1:c.157C>A	NP_001280000.1:p.Gln53Lys
NM_001293072.1:c.217C>A	NP_001280001.1:p.Gln73Lys
NM_004067.3:c.262C>A	NP_004058.1:p.Gln88Lys
XM_011515105.1:c.565C>A	XP_011513407.1:p.Gln189Lys
XM_011515106.1:c.526C>A	XP_011513408.1:p.Gln176Lys
XM_011515107.1:c.340C>A	XP_011513409.1:p.Gln114Lys
XM_011515108.1:c.262C>A	XP_011513410.1:p.Gln88Lys
XM_011515109.1:c.223C>A	XP_011513411.1:p.Gln75Lys
XM_011515110.1:c.184C>A	XP_011513412.1:p.Gln62Lys
XM_011515111.1:c.157C>A	XP_011513413.1:p.Gln53Lys
XM_011515112.1:c.565C>A	XP_011513414.1:p.Gln189Lys
XM_011515105.2:c.565C>A	XP_011513407.1:p.Gln189Lys
XM_011515106.2:c.526C>A	XP_011513408.1:p.Gln176Lys
XM_011515107.2:c.340C>A	XP_011513409.1:p.Gln114Lys
XM_017011721.1:c.583C>A	XP_016867210.1:p.Gln195Lys
XM_017011722.1:c.358C>A	XP_016867211.1:p.Gln120Lys
NM_004067.4:c.262C>A MANE Select	NP_004058.1:p.Gln88Lys
NM_001293070.2:c.301C>A	NP_001279999.1:p.Gln101Lys
NM_001293071.2:c.157C>A	NP_001280000.1:p.Gln53Lys
NM_001293072.2:c.217C>A	NP_001280001.1:p.Gln73Lys
NM_001398427.1:c.-177C>A	NP_001385356.1:n.-177C>A