Canonical Allele Identifier: CA4202031

Gene: CHN2

Linked Data

• dbSNP Id: rs372832747
• ExAC: 7:29438025 G / A
• gnomAD v2: 7-29438025-G-A
• gnomAD v3: 7-29398409-G-A
• gnomAD v4: 7-29398409-G-A
• MyVariant Identifiers: chr7:g.29438025G>A (hg19) ; chr7:g.29398409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398409G>A , CM000669.2:g.29398409G>A	GRCh38
NC_000007.13:g.29438025G>A , CM000669.1:g.29438025G>A	GRCh37
NC_000007.12:g.29404550G>A	NCBI36
NG_029365.2:g.256863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.252G>A	ENSP00000386968.2:p.Glu84=
ENST00000439384.6:n.475G>A
ENST00000446446.6:c.213G>A	ENSP00000396867.2:p.Glu71=
ENST00000706158.1:c.*157G>A	ENSP00000516236.1:n.*157G>A
ENST00000706159.1:c.125G>A	ENSP00000516237.1:p.Ser42Asn
ENST00000706160.1:c.213G>A	ENSP00000516238.1:p.Glu71=
ENST00000706161.1:c.291G>A	ENSP00000516239.1:p.Glu97=
ENST00000706162.1:c.213G>A	ENSP00000516240.1:p.Glu71=
ENST00000706163.1:c.50-81870G>A	ENSP00000516241.1:n.50-81870G>A
ENST00000222792.11:c.213G>A MANE Select	ENSP00000222792.7:p.Glu71=
ENST00000644824.1:c.438G>A	ENSP00000495614.1:p.Glu146=
ENST00000222792.10:c.213G>A	ENSP00000222792.6:p.Glu71=
ENST00000409350.5:c.252G>A	ENSP00000386968.1:p.Glu84=
ENST00000409922.5:n.424G>A
ENST00000409964.6:n.412G>A
ENST00000412536.5:n.233G>A
ENST00000435288.6:c.168+4707G>A	ENSP00000400282.3:n.168+4707G>A
ENST00000439384.5:c.438G>A	ENSP00000409843.1:p.Glu146=
ENST00000474070.5:c.313G>A
ENST00000478128.6:n.307G>A
ENST00000482820.6:n.422G>A
ENST00000491856.1:n.1762G>A
ENST00000495789.6:c.213G>A	ENSP00000438587.2:p.Glu71=
ENST00000539389.5:c.213G>A	ENSP00000440526.2:p.Glu71=
ENST00000539406.5:c.213G>A	ENSP00000444063.2:p.Glu71=
NM_001293069.1:c.438G>A	NP_001279998.1:p.Glu146=
NM_001293070.1:c.252G>A	NP_001279999.1:p.Glu84=
NM_001293071.1:c.108G>A	NP_001280000.1:p.Glu36=
NM_001293072.1:c.168G>A	NP_001280001.1:p.Glu56=
NM_004067.3:c.213G>A	NP_004058.1:p.Glu71=
XM_011515105.1:c.516G>A	XP_011513407.1:p.Glu172=
XM_011515106.1:c.477G>A	XP_011513408.1:p.Glu159=
XM_011515107.1:c.291G>A	XP_011513409.1:p.Glu97=
XM_011515108.1:c.213G>A	XP_011513410.1:p.Glu71=
XM_011515109.1:c.174G>A	XP_011513411.1:p.Glu58=
XM_011515110.1:c.135G>A	XP_011513412.1:p.Glu45=
XM_011515111.1:c.108G>A	XP_011513413.1:p.Glu36=
XM_011515112.1:c.516G>A	XP_011513414.1:p.Glu172=
XM_011515105.2:c.516G>A	XP_011513407.1:p.Glu172=
XM_011515106.2:c.477G>A	XP_011513408.1:p.Glu159=
XM_011515107.2:c.291G>A	XP_011513409.1:p.Glu97=
XM_017011721.1:c.534G>A	XP_016867210.1:p.Glu178=
XM_017011722.1:c.309G>A	XP_016867211.1:p.Glu103=
NM_004067.4:c.213G>A MANE Select	NP_004058.1:p.Glu71=
NM_001293070.2:c.252G>A	NP_001279999.1:p.Glu84=
NM_001293071.2:c.108G>A	NP_001280000.1:p.Glu36=
NM_001293072.2:c.168G>A	NP_001280001.1:p.Glu56=
NM_001398427.1:c.-226G>A	NP_001385356.1:n.-226G>A