Canonical Allele Identifier: CA454421585

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398415-T-G
• MyVariant Identifiers: chr7:g.29438031T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398415T>G , CM000669.2:g.29398415T>G	GRCh38
NC_000007.13:g.29438031T>G , CM000669.1:g.29438031T>G	GRCh37
NC_000007.12:g.29404556T>G	NCBI36
NG_029365.2:g.256869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.258T>G	ENSP00000386968.2:p.Leu86=
ENST00000439384.6:n.481T>G
ENST00000446446.6:c.219T>G	ENSP00000396867.2:p.Leu73=
ENST00000706158.1:c.*163T>G	ENSP00000516236.1:n.*163T>G
ENST00000706159.1:c.131T>G	ENSP00000516237.1:p.Leu44Trp
ENST00000706160.1:c.219T>G	ENSP00000516238.1:p.Leu73=
ENST00000706161.1:c.297T>G	ENSP00000516239.1:p.Leu99=
ENST00000706162.1:c.219T>G	ENSP00000516240.1:p.Leu73=
ENST00000706163.1:c.50-81864T>G	ENSP00000516241.1:n.50-81864T>G
ENST00000222792.11:c.219T>G MANE Select	ENSP00000222792.7:p.Leu73=
ENST00000644824.1:c.444T>G	ENSP00000495614.1:p.Leu148=
ENST00000222792.10:c.219T>G	ENSP00000222792.6:p.Leu73=
ENST00000409350.5:c.258T>G	ENSP00000386968.1:p.Leu86=
ENST00000409922.5:n.430T>G
ENST00000409964.6:n.418T>G
ENST00000412536.5:n.239T>G
ENST00000435288.6:c.168+4713T>G	ENSP00000400282.3:n.168+4713T>G
ENST00000439384.5:c.444T>G	ENSP00000409843.1:p.Leu148=
ENST00000474070.5:c.319T>G
ENST00000478128.6:n.313T>G
ENST00000482820.6:n.428T>G
ENST00000491856.1:n.1768T>G
ENST00000495789.6:c.219T>G	ENSP00000438587.2:p.Leu73=
ENST00000539389.5:c.219T>G	ENSP00000440526.2:p.Leu73=
ENST00000539406.5:c.219T>G	ENSP00000444063.2:p.Leu73=
NM_001293069.1:c.444T>G	NP_001279998.1:p.Leu148=
NM_001293070.1:c.258T>G	NP_001279999.1:p.Leu86=
NM_001293071.1:c.114T>G	NP_001280000.1:p.Leu38=
NM_001293072.1:c.174T>G	NP_001280001.1:p.Leu58=
NM_004067.3:c.219T>G	NP_004058.1:p.Leu73=
XM_011515105.1:c.522T>G	XP_011513407.1:p.Leu174=
XM_011515106.1:c.483T>G	XP_011513408.1:p.Leu161=
XM_011515107.1:c.297T>G	XP_011513409.1:p.Leu99=
XM_011515108.1:c.219T>G	XP_011513410.1:p.Leu73=
XM_011515109.1:c.180T>G	XP_011513411.1:p.Leu60=
XM_011515110.1:c.141T>G	XP_011513412.1:p.Leu47=
XM_011515111.1:c.114T>G	XP_011513413.1:p.Leu38=
XM_011515112.1:c.522T>G	XP_011513414.1:p.Leu174=
XM_011515105.2:c.522T>G	XP_011513407.1:p.Leu174=
XM_011515106.2:c.483T>G	XP_011513408.1:p.Leu161=
XM_011515107.2:c.297T>G	XP_011513409.1:p.Leu99=
XM_017011721.1:c.540T>G	XP_016867210.1:p.Leu180=
XM_017011722.1:c.315T>G	XP_016867211.1:p.Leu105=
NM_004067.4:c.219T>G MANE Select	NP_004058.1:p.Leu73=
NM_001293070.2:c.258T>G	NP_001279999.1:p.Leu86=
NM_001293071.2:c.114T>G	NP_001280000.1:p.Leu38=
NM_001293072.2:c.174T>G	NP_001280001.1:p.Leu58=
NM_001398427.1:c.-220T>G	NP_001385356.1:n.-220T>G