Canonical Allele Identifier: CA367241642

Gene: CHN2

Linked Data

• dbSNP Id: rs2128082152
• gnomAD v4: 7-29398406-T-G
• MyVariant Identifiers: chr7:g.29438022T>G (hg19) ; chr7:g.29398406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398406T>G , CM000669.2:g.29398406T>G	GRCh38
NC_000007.13:g.29438022T>G , CM000669.1:g.29438022T>G	GRCh37
NC_000007.12:g.29404547T>G	NCBI36
NG_029365.2:g.256860T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.249T>G	ENSP00000386968.2:p.Asp83Glu
ENST00000439384.6:n.472T>G
ENST00000446446.6:c.210T>G	ENSP00000396867.2:p.Asp70Glu
ENST00000706158.1:c.*154T>G	ENSP00000516236.1:n.*154T>G
ENST00000706159.1:c.122T>G	ENSP00000516237.1:p.Met41Arg
ENST00000706160.1:c.210T>G	ENSP00000516238.1:p.Asp70Glu
ENST00000706161.1:c.288T>G	ENSP00000516239.1:p.Asp96Glu
ENST00000706162.1:c.210T>G	ENSP00000516240.1:p.Asp70Glu
ENST00000706163.1:c.50-81873T>G	ENSP00000516241.1:n.50-81873T>G
ENST00000222792.11:c.210T>G MANE Select	ENSP00000222792.7:p.Asp70Glu
ENST00000644824.1:c.435T>G	ENSP00000495614.1:p.Asp145Glu
ENST00000222792.10:c.210T>G	ENSP00000222792.6:p.Asp70Glu
ENST00000409350.5:c.249T>G	ENSP00000386968.1:p.Asp83Glu
ENST00000409922.5:n.421T>G
ENST00000409964.6:n.409T>G
ENST00000412536.5:n.230T>G
ENST00000435288.6:c.168+4704T>G	ENSP00000400282.3:n.168+4704T>G
ENST00000439384.5:c.435T>G	ENSP00000409843.1:p.Asp145Glu
ENST00000474070.5:c.310T>G
ENST00000478128.6:n.304T>G
ENST00000482820.6:n.419T>G
ENST00000491856.1:n.1759T>G
ENST00000495789.6:c.210T>G	ENSP00000438587.2:p.Asp70Glu
ENST00000539389.5:c.210T>G	ENSP00000440526.2:p.Asp70Glu
ENST00000539406.5:c.210T>G	ENSP00000444063.2:p.Asp70Glu
NM_001293069.1:c.435T>G	NP_001279998.1:p.Asp145Glu
NM_001293070.1:c.249T>G	NP_001279999.1:p.Asp83Glu
NM_001293071.1:c.105T>G	NP_001280000.1:p.Asp35Glu
NM_001293072.1:c.165T>G	NP_001280001.1:p.Asp55Glu
NM_004067.3:c.210T>G	NP_004058.1:p.Asp70Glu
XM_011515105.1:c.513T>G	XP_011513407.1:p.Asp171Glu
XM_011515106.1:c.474T>G	XP_011513408.1:p.Asp158Glu
XM_011515107.1:c.288T>G	XP_011513409.1:p.Asp96Glu
XM_011515108.1:c.210T>G	XP_011513410.1:p.Asp70Glu
XM_011515109.1:c.171T>G	XP_011513411.1:p.Asp57Glu
XM_011515110.1:c.132T>G	XP_011513412.1:p.Asp44Glu
XM_011515111.1:c.105T>G	XP_011513413.1:p.Asp35Glu
XM_011515112.1:c.513T>G	XP_011513414.1:p.Asp171Glu
XM_011515105.2:c.513T>G	XP_011513407.1:p.Asp171Glu
XM_011515106.2:c.474T>G	XP_011513408.1:p.Asp158Glu
XM_011515107.2:c.288T>G	XP_011513409.1:p.Asp96Glu
XM_017011721.1:c.531T>G	XP_016867210.1:p.Asp177Glu
XM_017011722.1:c.306T>G	XP_016867211.1:p.Asp102Glu
NM_004067.4:c.210T>G MANE Select	NP_004058.1:p.Asp70Glu
NM_001293070.2:c.249T>G	NP_001279999.1:p.Asp83Glu
NM_001293071.2:c.105T>G	NP_001280000.1:p.Asp35Glu
NM_001293072.2:c.165T>G	NP_001280001.1:p.Asp55Glu
NM_001398427.1:c.-229T>G	NP_001385356.1:n.-229T>G