Canonical Allele Identifier: CA454421632

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398481-T-C
• MyVariant Identifiers: chr7:g.29438097T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398481T>C , CM000669.2:g.29398481T>C	GRCh38
NC_000007.13:g.29438097T>C , CM000669.1:g.29438097T>C	GRCh37
NC_000007.12:g.29404622T>C	NCBI36
NG_029365.2:g.256935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.324T>C	ENSP00000386968.2:p.Ala108=
ENST00000439384.6:n.547T>C
ENST00000446446.6:c.285T>C	ENSP00000396867.2:p.Ala95=
ENST00000706158.1:c.*229T>C	ENSP00000516236.1:n.*229T>C
ENST00000706159.1:c.197T>C	ENSP00000516237.1:p.Leu66Pro
ENST00000706160.1:c.285T>C	ENSP00000516238.1:p.Ala95=
ENST00000706161.1:c.363T>C	ENSP00000516239.1:p.Ala121=
ENST00000706162.1:c.285T>C	ENSP00000516240.1:p.Ala95=
ENST00000706163.1:c.50-81798T>C	ENSP00000516241.1:n.50-81798T>C
ENST00000222792.11:c.285T>C MANE Select	ENSP00000222792.7:p.Ala95=
ENST00000644824.1:c.510T>C	ENSP00000495614.1:p.Ala170=
ENST00000222792.10:c.285T>C	ENSP00000222792.6:p.Ala95=
ENST00000409350.5:c.324T>C	ENSP00000386968.1:p.Ala108=
ENST00000409922.5:n.496T>C
ENST00000409964.6:n.484T>C
ENST00000412536.5:n.305T>C
ENST00000435288.6:c.168+4779T>C	ENSP00000400282.3:n.168+4779T>C
ENST00000439384.5:c.510T>C	ENSP00000409843.1:p.Ala170=
ENST00000474070.5:c.385T>C
ENST00000478128.6:n.379T>C
ENST00000482820.6:n.494T>C
ENST00000491856.1:n.1834T>C
ENST00000495789.6:c.285T>C	ENSP00000438587.2:p.Ala95=
ENST00000539389.5:c.285T>C	ENSP00000440526.2:p.Ala95=
ENST00000539406.5:c.285T>C	ENSP00000444063.2:p.Ala95=
NM_001293069.1:c.510T>C	NP_001279998.1:p.Ala170=
NM_001293070.1:c.324T>C	NP_001279999.1:p.Ala108=
NM_001293071.1:c.180T>C	NP_001280000.1:p.Ala60=
NM_001293072.1:c.240T>C	NP_001280001.1:p.Ala80=
NM_004067.3:c.285T>C	NP_004058.1:p.Ala95=
XM_011515105.1:c.588T>C	XP_011513407.1:p.Ala196=
XM_011515106.1:c.549T>C	XP_011513408.1:p.Ala183=
XM_011515107.1:c.363T>C	XP_011513409.1:p.Ala121=
XM_011515108.1:c.285T>C	XP_011513410.1:p.Ala95=
XM_011515109.1:c.246T>C	XP_011513411.1:p.Ala82=
XM_011515110.1:c.207T>C	XP_011513412.1:p.Ala69=
XM_011515111.1:c.180T>C	XP_011513413.1:p.Ala60=
XM_011515112.1:c.588T>C	XP_011513414.1:p.Ala196=
XM_011515105.2:c.588T>C	XP_011513407.1:p.Ala196=
XM_011515106.2:c.549T>C	XP_011513408.1:p.Ala183=
XM_011515107.2:c.363T>C	XP_011513409.1:p.Ala121=
XM_017011721.1:c.606T>C	XP_016867210.1:p.Ala202=
XM_017011722.1:c.381T>C	XP_016867211.1:p.Ala127=
NM_004067.4:c.285T>C MANE Select	NP_004058.1:p.Ala95=
NM_001293070.2:c.324T>C	NP_001279999.1:p.Ala108=
NM_001293071.2:c.180T>C	NP_001280000.1:p.Ala60=
NM_001293072.2:c.240T>C	NP_001280001.1:p.Ala80=
NM_001398427.1:c.-154T>C	NP_001385356.1:n.-154T>C