Canonical Allele Identifier: CA367241612

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438009G>T (hg19) ; chr7:g.29398393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398393G>T , CM000669.2:g.29398393G>T	GRCh38
NC_000007.13:g.29438009G>T , CM000669.1:g.29438009G>T	GRCh37
NC_000007.12:g.29404534G>T	NCBI36
NG_029365.2:g.256847G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.236G>T	ENSP00000386968.2:p.Arg79Leu
ENST00000439384.6:n.459G>T
ENST00000446446.6:c.197G>T	ENSP00000396867.2:p.Arg66Leu
ENST00000706158.1:c.*141G>T	ENSP00000516236.1:n.*141G>T
ENST00000706159.1:c.109G>T	ENSP00000516237.1:p.Gly37Trp
ENST00000706160.1:c.197G>T	ENSP00000516238.1:p.Arg66Leu
ENST00000706161.1:c.275G>T	ENSP00000516239.1:p.Arg92Leu
ENST00000706162.1:c.197G>T	ENSP00000516240.1:p.Arg66Leu
ENST00000706163.1:c.50-81886G>T	ENSP00000516241.1:n.50-81886G>T
ENST00000222792.11:c.197G>T MANE Select	ENSP00000222792.7:p.Arg66Leu
ENST00000644824.1:c.422G>T	ENSP00000495614.1:p.Arg141Leu
ENST00000222792.10:c.197G>T	ENSP00000222792.6:p.Arg66Leu
ENST00000409350.5:c.236G>T	ENSP00000386968.1:p.Arg79Leu
ENST00000409922.5:n.408G>T
ENST00000409964.6:n.396G>T
ENST00000412536.5:n.217G>T
ENST00000435288.6:c.168+4691G>T	ENSP00000400282.3:n.168+4691G>T
ENST00000439384.5:c.422G>T	ENSP00000409843.1:p.Arg141Leu
ENST00000474070.5:c.297G>T
ENST00000478128.6:n.291G>T
ENST00000482820.6:n.406G>T
ENST00000491856.1:n.1746G>T
ENST00000495789.6:c.197G>T	ENSP00000438587.2:p.Arg66Leu
ENST00000539389.5:c.197G>T	ENSP00000440526.2:p.Arg66Leu
ENST00000539406.5:c.197G>T	ENSP00000444063.2:p.Arg66Leu
NM_001293069.1:c.422G>T	NP_001279998.1:p.Arg141Leu
NM_001293070.1:c.236G>T	NP_001279999.1:p.Arg79Leu
NM_001293071.1:c.92G>T	NP_001280000.1:p.Arg31Leu
NM_001293072.1:c.152G>T	NP_001280001.1:p.Arg51Leu
NM_004067.3:c.197G>T	NP_004058.1:p.Arg66Leu
XM_011515105.1:c.500G>T	XP_011513407.1:p.Arg167Leu
XM_011515106.1:c.461G>T	XP_011513408.1:p.Arg154Leu
XM_011515107.1:c.275G>T	XP_011513409.1:p.Arg92Leu
XM_011515108.1:c.197G>T	XP_011513410.1:p.Arg66Leu
XM_011515109.1:c.158G>T	XP_011513411.1:p.Arg53Leu
XM_011515110.1:c.119G>T	XP_011513412.1:p.Arg40Leu
XM_011515111.1:c.92G>T	XP_011513413.1:p.Arg31Leu
XM_011515112.1:c.500G>T	XP_011513414.1:p.Arg167Leu
XM_011515105.2:c.500G>T	XP_011513407.1:p.Arg167Leu
XM_011515106.2:c.461G>T	XP_011513408.1:p.Arg154Leu
XM_011515107.2:c.275G>T	XP_011513409.1:p.Arg92Leu
XM_017011721.1:c.518G>T	XP_016867210.1:p.Arg173Leu
XM_017011722.1:c.293G>T	XP_016867211.1:p.Arg98Leu
NM_004067.4:c.197G>T MANE Select	NP_004058.1:p.Arg66Leu
NM_001293070.2:c.236G>T	NP_001279999.1:p.Arg79Leu
NM_001293071.2:c.92G>T	NP_001280000.1:p.Arg31Leu
NM_001293072.2:c.152G>T	NP_001280001.1:p.Arg51Leu
NM_001398427.1:c.-242G>T	NP_001385356.1:n.-242G>T