Canonical Allele Identifier: CA4202028

Gene: CHN2

Linked Data

• dbSNP Id: rs777532886
• ExAC: 7:29438018 C / T
• gnomAD v2: 7-29438018-C-T
• gnomAD v4: 7-29398402-C-T
• MyVariant Identifiers: chr7:g.29438018C>T (hg19) ; chr7:g.29398402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398402C>T , CM000669.2:g.29398402C>T	GRCh38
NC_000007.13:g.29438018C>T , CM000669.1:g.29438018C>T	GRCh37
NC_000007.12:g.29404543C>T	NCBI36
NG_029365.2:g.256856C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.245C>T	ENSP00000386968.2:p.Ala82Val
ENST00000439384.6:n.468C>T
ENST00000446446.6:c.206C>T	ENSP00000396867.2:p.Ala69Val
ENST00000706158.1:c.*150C>T	ENSP00000516236.1:n.*150C>T
ENST00000706159.1:c.118C>T	ENSP00000516237.1:p.Arg40Trp
ENST00000706160.1:c.206C>T	ENSP00000516238.1:p.Ala69Val
ENST00000706161.1:c.284C>T	ENSP00000516239.1:p.Ala95Val
ENST00000706162.1:c.206C>T	ENSP00000516240.1:p.Ala69Val
ENST00000706163.1:c.50-81877C>T	ENSP00000516241.1:n.50-81877C>T
ENST00000222792.11:c.206C>T MANE Select	ENSP00000222792.7:p.Ala69Val
ENST00000644824.1:c.431C>T	ENSP00000495614.1:p.Ala144Val
ENST00000222792.10:c.206C>T	ENSP00000222792.6:p.Ala69Val
ENST00000409350.5:c.245C>T	ENSP00000386968.1:p.Ala82Val
ENST00000409922.5:n.417C>T
ENST00000409964.6:n.405C>T
ENST00000412536.5:n.226C>T
ENST00000435288.6:c.168+4700C>T	ENSP00000400282.3:n.168+4700C>T
ENST00000439384.5:c.431C>T	ENSP00000409843.1:p.Ala144Val
ENST00000474070.5:c.306C>T
ENST00000478128.6:n.300C>T
ENST00000482820.6:n.415C>T
ENST00000491856.1:n.1755C>T
ENST00000495789.6:c.206C>T	ENSP00000438587.2:p.Ala69Val
ENST00000539389.5:c.206C>T	ENSP00000440526.2:p.Ala69Val
ENST00000539406.5:c.206C>T	ENSP00000444063.2:p.Ala69Val
NM_001293069.1:c.431C>T	NP_001279998.1:p.Ala144Val
NM_001293070.1:c.245C>T	NP_001279999.1:p.Ala82Val
NM_001293071.1:c.101C>T	NP_001280000.1:p.Ala34Val
NM_001293072.1:c.161C>T	NP_001280001.1:p.Ala54Val
NM_004067.3:c.206C>T	NP_004058.1:p.Ala69Val
XM_011515105.1:c.509C>T	XP_011513407.1:p.Ala170Val
XM_011515106.1:c.470C>T	XP_011513408.1:p.Ala157Val
XM_011515107.1:c.284C>T	XP_011513409.1:p.Ala95Val
XM_011515108.1:c.206C>T	XP_011513410.1:p.Ala69Val
XM_011515109.1:c.167C>T	XP_011513411.1:p.Ala56Val
XM_011515110.1:c.128C>T	XP_011513412.1:p.Ala43Val
XM_011515111.1:c.101C>T	XP_011513413.1:p.Ala34Val
XM_011515112.1:c.509C>T	XP_011513414.1:p.Ala170Val
XM_011515105.2:c.509C>T	XP_011513407.1:p.Ala170Val
XM_011515106.2:c.470C>T	XP_011513408.1:p.Ala157Val
XM_011515107.2:c.284C>T	XP_011513409.1:p.Ala95Val
XM_017011721.1:c.527C>T	XP_016867210.1:p.Ala176Val
XM_017011722.1:c.302C>T	XP_016867211.1:p.Ala101Val
NM_004067.4:c.206C>T MANE Select	NP_004058.1:p.Ala69Val
NM_001293070.2:c.245C>T	NP_001279999.1:p.Ala82Val
NM_001293071.2:c.101C>T	NP_001280000.1:p.Ala34Val
NM_001293072.2:c.161C>T	NP_001280001.1:p.Ala54Val
NM_001398427.1:c.-233C>T	NP_001385356.1:n.-233C>T