Canonical Allele Identifier: CA454421566

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398385-C-A
• MyVariant Identifiers: chr7:g.29438001C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398385C>A , CM000669.2:g.29398385C>A	GRCh38
NC_000007.13:g.29438001C>A , CM000669.1:g.29438001C>A	GRCh37
NC_000007.12:g.29404526C>A	NCBI36
NG_029365.2:g.256839C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.228C>A	ENSP00000386968.2:p.Ile76=
ENST00000439384.6:n.451C>A
ENST00000446446.6:c.189C>A	ENSP00000396867.2:p.Ile63=
ENST00000706158.1:c.*133C>A	ENSP00000516236.1:n.*133C>A
ENST00000706159.1:c.101C>A	ENSP00000516237.1:p.Ser34Ter
ENST00000706160.1:c.189C>A	ENSP00000516238.1:p.Ile63=
ENST00000706161.1:c.267C>A	ENSP00000516239.1:p.Ile89=
ENST00000706162.1:c.189C>A	ENSP00000516240.1:p.Ile63=
ENST00000706163.1:c.50-81894C>A	ENSP00000516241.1:n.50-81894C>A
ENST00000222792.11:c.189C>A MANE Select	ENSP00000222792.7:p.Ile63=
ENST00000644824.1:c.414C>A	ENSP00000495614.1:p.Ile138=
ENST00000222792.10:c.189C>A	ENSP00000222792.6:p.Ile63=
ENST00000409350.5:c.228C>A	ENSP00000386968.1:p.Ile76=
ENST00000409922.5:n.400C>A
ENST00000409964.6:n.388C>A
ENST00000412536.5:n.209C>A
ENST00000435288.6:c.168+4683C>A	ENSP00000400282.3:n.168+4683C>A
ENST00000439384.5:c.414C>A	ENSP00000409843.1:p.Ile138=
ENST00000474070.5:c.289C>A
ENST00000478128.6:n.283C>A
ENST00000482820.6:n.398C>A
ENST00000491856.1:n.1738C>A
ENST00000495789.6:c.189C>A	ENSP00000438587.2:p.Ile63=
ENST00000539389.5:c.189C>A	ENSP00000440526.2:p.Ile63=
ENST00000539406.5:c.189C>A	ENSP00000444063.2:p.Ile63=
NM_001293069.1:c.414C>A	NP_001279998.1:p.Ile138=
NM_001293070.1:c.228C>A	NP_001279999.1:p.Ile76=
NM_001293071.1:c.84C>A	NP_001280000.1:p.Ile28=
NM_001293072.1:c.144C>A	NP_001280001.1:p.Ile48=
NM_004067.3:c.189C>A	NP_004058.1:p.Ile63=
XM_011515105.1:c.492C>A	XP_011513407.1:p.Ile164=
XM_011515106.1:c.453C>A	XP_011513408.1:p.Ile151=
XM_011515107.1:c.267C>A	XP_011513409.1:p.Ile89=
XM_011515108.1:c.189C>A	XP_011513410.1:p.Ile63=
XM_011515109.1:c.150C>A	XP_011513411.1:p.Ile50=
XM_011515110.1:c.111C>A	XP_011513412.1:p.Ile37=
XM_011515111.1:c.84C>A	XP_011513413.1:p.Ile28=
XM_011515112.1:c.492C>A	XP_011513414.1:p.Ile164=
XM_011515105.2:c.492C>A	XP_011513407.1:p.Ile164=
XM_011515106.2:c.453C>A	XP_011513408.1:p.Ile151=
XM_011515107.2:c.267C>A	XP_011513409.1:p.Ile89=
XM_017011721.1:c.510C>A	XP_016867210.1:p.Ile170=
XM_017011722.1:c.285C>A	XP_016867211.1:p.Ile95=
NM_004067.4:c.189C>A MANE Select	NP_004058.1:p.Ile63=
NM_001293070.2:c.228C>A	NP_001279999.1:p.Ile76=
NM_001293071.2:c.84C>A	NP_001280000.1:p.Ile28=
NM_001293072.2:c.144C>A	NP_001280001.1:p.Ile48=
NM_001398427.1:c.-250C>A	NP_001385356.1:n.-250C>A