Canonical Allele Identifier: CA367241690

Gene: CHN2

Linked Data

• dbSNP Id: rs1272179799
• gnomAD v2: 7-29438047-G-A
• gnomAD v4: 7-29398431-G-A
• MyVariant Identifiers: chr7:g.29438047G>A (hg19) ; chr7:g.29398431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398431G>A , CM000669.2:g.29398431G>A	GRCh38
NC_000007.13:g.29438047G>A , CM000669.1:g.29438047G>A	GRCh37
NC_000007.12:g.29404572G>A	NCBI36
NG_029365.2:g.256885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.274G>A	ENSP00000386968.2:p.Ala92Thr
ENST00000439384.6:n.497G>A
ENST00000446446.6:c.235G>A	ENSP00000396867.2:p.Ala79Thr
ENST00000706158.1:c.*179G>A	ENSP00000516236.1:n.*179G>A
ENST00000706159.1:c.147G>A	ENSP00000516237.1:p.Val49=
ENST00000706160.1:c.235G>A	ENSP00000516238.1:p.Ala79Thr
ENST00000706161.1:c.313G>A	ENSP00000516239.1:p.Ala105Thr
ENST00000706162.1:c.235G>A	ENSP00000516240.1:p.Ala79Thr
ENST00000706163.1:c.50-81848G>A	ENSP00000516241.1:n.50-81848G>A
ENST00000222792.11:c.235G>A MANE Select	ENSP00000222792.7:p.Ala79Thr
ENST00000644824.1:c.460G>A	ENSP00000495614.1:p.Ala154Thr
ENST00000222792.10:c.235G>A	ENSP00000222792.6:p.Ala79Thr
ENST00000409350.5:c.274G>A	ENSP00000386968.1:p.Ala92Thr
ENST00000409922.5:n.446G>A
ENST00000409964.6:n.434G>A
ENST00000412536.5:n.255G>A
ENST00000435288.6:c.168+4729G>A	ENSP00000400282.3:n.168+4729G>A
ENST00000439384.5:c.460G>A	ENSP00000409843.1:p.Ala154Thr
ENST00000474070.5:c.335G>A
ENST00000478128.6:n.329G>A
ENST00000482820.6:n.444G>A
ENST00000491856.1:n.1784G>A
ENST00000495789.6:c.235G>A	ENSP00000438587.2:p.Ala79Thr
ENST00000539389.5:c.235G>A	ENSP00000440526.2:p.Ala79Thr
ENST00000539406.5:c.235G>A	ENSP00000444063.2:p.Ala79Thr
NM_001293069.1:c.460G>A	NP_001279998.1:p.Ala154Thr
NM_001293070.1:c.274G>A	NP_001279999.1:p.Ala92Thr
NM_001293071.1:c.130G>A	NP_001280000.1:p.Ala44Thr
NM_001293072.1:c.190G>A	NP_001280001.1:p.Ala64Thr
NM_004067.3:c.235G>A	NP_004058.1:p.Ala79Thr
XM_011515105.1:c.538G>A	XP_011513407.1:p.Ala180Thr
XM_011515106.1:c.499G>A	XP_011513408.1:p.Ala167Thr
XM_011515107.1:c.313G>A	XP_011513409.1:p.Ala105Thr
XM_011515108.1:c.235G>A	XP_011513410.1:p.Ala79Thr
XM_011515109.1:c.196G>A	XP_011513411.1:p.Ala66Thr
XM_011515110.1:c.157G>A	XP_011513412.1:p.Ala53Thr
XM_011515111.1:c.130G>A	XP_011513413.1:p.Ala44Thr
XM_011515112.1:c.538G>A	XP_011513414.1:p.Ala180Thr
XM_011515105.2:c.538G>A	XP_011513407.1:p.Ala180Thr
XM_011515106.2:c.499G>A	XP_011513408.1:p.Ala167Thr
XM_011515107.2:c.313G>A	XP_011513409.1:p.Ala105Thr
XM_017011721.1:c.556G>A	XP_016867210.1:p.Ala186Thr
XM_017011722.1:c.331G>A	XP_016867211.1:p.Ala111Thr
NM_004067.4:c.235G>A MANE Select	NP_004058.1:p.Ala79Thr
NM_001293070.2:c.274G>A	NP_001279999.1:p.Ala92Thr
NM_001293071.2:c.130G>A	NP_001280000.1:p.Ala44Thr
NM_001293072.2:c.190G>A	NP_001280001.1:p.Ala64Thr
NM_001398427.1:c.-204G>A	NP_001385356.1:n.-204G>A