Canonical Allele Identifier: CA454421626

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398472-C-T
• MyVariant Identifiers: chr7:g.29438088C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398472C>T , CM000669.2:g.29398472C>T	GRCh38
NC_000007.13:g.29438088C>T , CM000669.1:g.29438088C>T	GRCh37
NC_000007.12:g.29404613C>T	NCBI36
NG_029365.2:g.256926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.315C>T	ENSP00000386968.2:p.Tyr105=
ENST00000439384.6:n.538C>T
ENST00000446446.6:c.276C>T	ENSP00000396867.2:p.Tyr92=
ENST00000706158.1:c.*220C>T	ENSP00000516236.1:n.*220C>T
ENST00000706159.1:c.188C>T	ENSP00000516237.1:p.Thr63Ile
ENST00000706160.1:c.276C>T	ENSP00000516238.1:p.Tyr92=
ENST00000706161.1:c.354C>T	ENSP00000516239.1:p.Tyr118=
ENST00000706162.1:c.276C>T	ENSP00000516240.1:p.Tyr92=
ENST00000706163.1:c.50-81807C>T	ENSP00000516241.1:n.50-81807C>T
ENST00000222792.11:c.276C>T MANE Select	ENSP00000222792.7:p.Tyr92=
ENST00000644824.1:c.501C>T	ENSP00000495614.1:p.Tyr167=
ENST00000222792.10:c.276C>T	ENSP00000222792.6:p.Tyr92=
ENST00000409350.5:c.315C>T	ENSP00000386968.1:p.Tyr105=
ENST00000409922.5:n.487C>T
ENST00000409964.6:n.475C>T
ENST00000412536.5:n.296C>T
ENST00000435288.6:c.168+4770C>T	ENSP00000400282.3:n.168+4770C>T
ENST00000439384.5:c.501C>T	ENSP00000409843.1:p.Tyr167=
ENST00000474070.5:c.376C>T
ENST00000478128.6:n.370C>T
ENST00000482820.6:n.485C>T
ENST00000491856.1:n.1825C>T
ENST00000495789.6:c.276C>T	ENSP00000438587.2:p.Tyr92=
ENST00000539389.5:c.276C>T	ENSP00000440526.2:p.Tyr92=
ENST00000539406.5:c.276C>T	ENSP00000444063.2:p.Tyr92=
NM_001293069.1:c.501C>T	NP_001279998.1:p.Tyr167=
NM_001293070.1:c.315C>T	NP_001279999.1:p.Tyr105=
NM_001293071.1:c.171C>T	NP_001280000.1:p.Tyr57=
NM_001293072.1:c.231C>T	NP_001280001.1:p.Tyr77=
NM_004067.3:c.276C>T	NP_004058.1:p.Tyr92=
XM_011515105.1:c.579C>T	XP_011513407.1:p.Tyr193=
XM_011515106.1:c.540C>T	XP_011513408.1:p.Tyr180=
XM_011515107.1:c.354C>T	XP_011513409.1:p.Tyr118=
XM_011515108.1:c.276C>T	XP_011513410.1:p.Tyr92=
XM_011515109.1:c.237C>T	XP_011513411.1:p.Tyr79=
XM_011515110.1:c.198C>T	XP_011513412.1:p.Tyr66=
XM_011515111.1:c.171C>T	XP_011513413.1:p.Tyr57=
XM_011515112.1:c.579C>T	XP_011513414.1:p.Tyr193=
XM_011515105.2:c.579C>T	XP_011513407.1:p.Tyr193=
XM_011515106.2:c.540C>T	XP_011513408.1:p.Tyr180=
XM_011515107.2:c.354C>T	XP_011513409.1:p.Tyr118=
XM_017011721.1:c.597C>T	XP_016867210.1:p.Tyr199=
XM_017011722.1:c.372C>T	XP_016867211.1:p.Tyr124=
NM_004067.4:c.276C>T MANE Select	NP_004058.1:p.Tyr92=
NM_001293070.2:c.315C>T	NP_001279999.1:p.Tyr105=
NM_001293071.2:c.171C>T	NP_001280000.1:p.Tyr57=
NM_001293072.2:c.231C>T	NP_001280001.1:p.Tyr77=
NM_001398427.1:c.-163C>T	NP_001385356.1:n.-163C>T