Canonical Allele Identifier: CA367241699

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438051A>T (hg19) ; chr7:g.29398435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398435A>T , CM000669.2:g.29398435A>T	GRCh38
NC_000007.13:g.29438051A>T , CM000669.1:g.29438051A>T	GRCh37
NC_000007.12:g.29404576A>T	NCBI36
NG_029365.2:g.256889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.278A>T	ENSP00000386968.2:p.Tyr93Phe
ENST00000439384.6:n.501A>T
ENST00000446446.6:c.239A>T	ENSP00000396867.2:p.Tyr80Phe
ENST00000706158.1:c.*183A>T	ENSP00000516236.1:n.*183A>T
ENST00000706159.1:c.151A>T	ENSP00000516237.1:p.Thr51Ser
ENST00000706160.1:c.239A>T	ENSP00000516238.1:p.Tyr80Phe
ENST00000706161.1:c.317A>T	ENSP00000516239.1:p.Tyr106Phe
ENST00000706162.1:c.239A>T	ENSP00000516240.1:p.Tyr80Phe
ENST00000706163.1:c.50-81844A>T	ENSP00000516241.1:n.50-81844A>T
ENST00000222792.11:c.239A>T MANE Select	ENSP00000222792.7:p.Tyr80Phe
ENST00000644824.1:c.464A>T	ENSP00000495614.1:p.Tyr155Phe
ENST00000222792.10:c.239A>T	ENSP00000222792.6:p.Tyr80Phe
ENST00000409350.5:c.278A>T	ENSP00000386968.1:p.Tyr93Phe
ENST00000409922.5:n.450A>T
ENST00000409964.6:n.438A>T
ENST00000412536.5:n.259A>T
ENST00000435288.6:c.168+4733A>T	ENSP00000400282.3:n.168+4733A>T
ENST00000439384.5:c.464A>T	ENSP00000409843.1:p.Tyr155Phe
ENST00000474070.5:c.339A>T
ENST00000478128.6:n.333A>T
ENST00000482820.6:n.448A>T
ENST00000491856.1:n.1788A>T
ENST00000495789.6:c.239A>T	ENSP00000438587.2:p.Tyr80Phe
ENST00000539389.5:c.239A>T	ENSP00000440526.2:p.Tyr80Phe
ENST00000539406.5:c.239A>T	ENSP00000444063.2:p.Tyr80Phe
NM_001293069.1:c.464A>T	NP_001279998.1:p.Tyr155Phe
NM_001293070.1:c.278A>T	NP_001279999.1:p.Tyr93Phe
NM_001293071.1:c.134A>T	NP_001280000.1:p.Tyr45Phe
NM_001293072.1:c.194A>T	NP_001280001.1:p.Tyr65Phe
NM_004067.3:c.239A>T	NP_004058.1:p.Tyr80Phe
XM_011515105.1:c.542A>T	XP_011513407.1:p.Tyr181Phe
XM_011515106.1:c.503A>T	XP_011513408.1:p.Tyr168Phe
XM_011515107.1:c.317A>T	XP_011513409.1:p.Tyr106Phe
XM_011515108.1:c.239A>T	XP_011513410.1:p.Tyr80Phe
XM_011515109.1:c.200A>T	XP_011513411.1:p.Tyr67Phe
XM_011515110.1:c.161A>T	XP_011513412.1:p.Tyr54Phe
XM_011515111.1:c.134A>T	XP_011513413.1:p.Tyr45Phe
XM_011515112.1:c.542A>T	XP_011513414.1:p.Tyr181Phe
XM_011515105.2:c.542A>T	XP_011513407.1:p.Tyr181Phe
XM_011515106.2:c.503A>T	XP_011513408.1:p.Tyr168Phe
XM_011515107.2:c.317A>T	XP_011513409.1:p.Tyr106Phe
XM_017011721.1:c.560A>T	XP_016867210.1:p.Tyr187Phe
XM_017011722.1:c.335A>T	XP_016867211.1:p.Tyr112Phe
NM_004067.4:c.239A>T MANE Select	NP_004058.1:p.Tyr80Phe
NM_001293070.2:c.278A>T	NP_001279999.1:p.Tyr93Phe
NM_001293071.2:c.134A>T	NP_001280000.1:p.Tyr45Phe
NM_001293072.2:c.194A>T	NP_001280001.1:p.Tyr65Phe
NM_001398427.1:c.-200A>T	NP_001385356.1:n.-200A>T