Canonical Allele Identifier: CA4202030

Gene: CHN2

Linked Data

• dbSNP Id: rs770232262
• ExAC: 7:29438023 G / C
• gnomAD v2: 7-29438023-G-C
• gnomAD v4: 7-29398407-G-C
• MyVariant Identifiers: chr7:g.29438023G>C (hg19) ; chr7:g.29398407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398407G>C , CM000669.2:g.29398407G>C	GRCh38
NC_000007.13:g.29438023G>C , CM000669.1:g.29438023G>C	GRCh37
NC_000007.12:g.29404548G>C	NCBI36
NG_029365.2:g.256861G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.250G>C	ENSP00000386968.2:p.Glu84Gln
ENST00000439384.6:n.473G>C
ENST00000446446.6:c.211G>C	ENSP00000396867.2:p.Glu71Gln
ENST00000706158.1:c.*155G>C	ENSP00000516236.1:n.*155G>C
ENST00000706159.1:c.123G>C	ENSP00000516237.1:p.Met41Ile
ENST00000706160.1:c.211G>C	ENSP00000516238.1:p.Glu71Gln
ENST00000706161.1:c.289G>C	ENSP00000516239.1:p.Glu97Gln
ENST00000706162.1:c.211G>C	ENSP00000516240.1:p.Glu71Gln
ENST00000706163.1:c.50-81872G>C	ENSP00000516241.1:n.50-81872G>C
ENST00000222792.11:c.211G>C MANE Select	ENSP00000222792.7:p.Glu71Gln
ENST00000644824.1:c.436G>C	ENSP00000495614.1:p.Glu146Gln
ENST00000222792.10:c.211G>C	ENSP00000222792.6:p.Glu71Gln
ENST00000409350.5:c.250G>C	ENSP00000386968.1:p.Glu84Gln
ENST00000409922.5:n.422G>C
ENST00000409964.6:n.410G>C
ENST00000412536.5:n.231G>C
ENST00000435288.6:c.168+4705G>C	ENSP00000400282.3:n.168+4705G>C
ENST00000439384.5:c.436G>C	ENSP00000409843.1:p.Glu146Gln
ENST00000474070.5:c.311G>C
ENST00000478128.6:n.305G>C
ENST00000482820.6:n.420G>C
ENST00000491856.1:n.1760G>C
ENST00000495789.6:c.211G>C	ENSP00000438587.2:p.Glu71Gln
ENST00000539389.5:c.211G>C	ENSP00000440526.2:p.Glu71Gln
ENST00000539406.5:c.211G>C	ENSP00000444063.2:p.Glu71Gln
NM_001293069.1:c.436G>C	NP_001279998.1:p.Glu146Gln
NM_001293070.1:c.250G>C	NP_001279999.1:p.Glu84Gln
NM_001293071.1:c.106G>C	NP_001280000.1:p.Glu36Gln
NM_001293072.1:c.166G>C	NP_001280001.1:p.Glu56Gln
NM_004067.3:c.211G>C	NP_004058.1:p.Glu71Gln
XM_011515105.1:c.514G>C	XP_011513407.1:p.Glu172Gln
XM_011515106.1:c.475G>C	XP_011513408.1:p.Glu159Gln
XM_011515107.1:c.289G>C	XP_011513409.1:p.Glu97Gln
XM_011515108.1:c.211G>C	XP_011513410.1:p.Glu71Gln
XM_011515109.1:c.172G>C	XP_011513411.1:p.Glu58Gln
XM_011515110.1:c.133G>C	XP_011513412.1:p.Glu45Gln
XM_011515111.1:c.106G>C	XP_011513413.1:p.Glu36Gln
XM_011515112.1:c.514G>C	XP_011513414.1:p.Glu172Gln
XM_011515105.2:c.514G>C	XP_011513407.1:p.Glu172Gln
XM_011515106.2:c.475G>C	XP_011513408.1:p.Glu159Gln
XM_011515107.2:c.289G>C	XP_011513409.1:p.Glu97Gln
XM_017011721.1:c.532G>C	XP_016867210.1:p.Glu178Gln
XM_017011722.1:c.307G>C	XP_016867211.1:p.Glu103Gln
NM_004067.4:c.211G>C MANE Select	NP_004058.1:p.Glu71Gln
NM_001293070.2:c.250G>C	NP_001279999.1:p.Glu84Gln
NM_001293071.2:c.106G>C	NP_001280000.1:p.Glu36Gln
NM_001293072.2:c.166G>C	NP_001280001.1:p.Glu56Gln
NM_001398427.1:c.-228G>C	NP_001385356.1:n.-228G>C