Canonical Allele Identifier: CA367241798

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398479-G-C
• MyVariant Identifiers: chr7:g.29438095G>C (hg19) ; chr7:g.29398479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398479G>C , CM000669.2:g.29398479G>C	GRCh38
NC_000007.13:g.29438095G>C , CM000669.1:g.29438095G>C	GRCh37
NC_000007.12:g.29404620G>C	NCBI36
NG_029365.2:g.256933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.322G>C	ENSP00000386968.2:p.Ala108Pro
ENST00000439384.6:n.545G>C
ENST00000446446.6:c.283G>C	ENSP00000396867.2:p.Ala95Pro
ENST00000706158.1:c.*227G>C	ENSP00000516236.1:n.*227G>C
ENST00000706159.1:c.195G>C	ENSP00000516237.1:p.Trp65Cys
ENST00000706160.1:c.283G>C	ENSP00000516238.1:p.Ala95Pro
ENST00000706161.1:c.361G>C	ENSP00000516239.1:p.Ala121Pro
ENST00000706162.1:c.283G>C	ENSP00000516240.1:p.Ala95Pro
ENST00000706163.1:c.50-81800G>C	ENSP00000516241.1:n.50-81800G>C
ENST00000222792.11:c.283G>C MANE Select	ENSP00000222792.7:p.Ala95Pro
ENST00000644824.1:c.508G>C	ENSP00000495614.1:p.Ala170Pro
ENST00000222792.10:c.283G>C	ENSP00000222792.6:p.Ala95Pro
ENST00000409350.5:c.322G>C	ENSP00000386968.1:p.Ala108Pro
ENST00000409922.5:n.494G>C
ENST00000409964.6:n.482G>C
ENST00000412536.5:n.303G>C
ENST00000435288.6:c.168+4777G>C	ENSP00000400282.3:n.168+4777G>C
ENST00000439384.5:c.508G>C	ENSP00000409843.1:p.Ala170Pro
ENST00000474070.5:c.383G>C
ENST00000478128.6:n.377G>C
ENST00000482820.6:n.492G>C
ENST00000491856.1:n.1832G>C
ENST00000495789.6:c.283G>C	ENSP00000438587.2:p.Ala95Pro
ENST00000539389.5:c.283G>C	ENSP00000440526.2:p.Ala95Pro
ENST00000539406.5:c.283G>C	ENSP00000444063.2:p.Ala95Pro
NM_001293069.1:c.508G>C	NP_001279998.1:p.Ala170Pro
NM_001293070.1:c.322G>C	NP_001279999.1:p.Ala108Pro
NM_001293071.1:c.178G>C	NP_001280000.1:p.Ala60Pro
NM_001293072.1:c.238G>C	NP_001280001.1:p.Ala80Pro
NM_004067.3:c.283G>C	NP_004058.1:p.Ala95Pro
XM_011515105.1:c.586G>C	XP_011513407.1:p.Ala196Pro
XM_011515106.1:c.547G>C	XP_011513408.1:p.Ala183Pro
XM_011515107.1:c.361G>C	XP_011513409.1:p.Ala121Pro
XM_011515108.1:c.283G>C	XP_011513410.1:p.Ala95Pro
XM_011515109.1:c.244G>C	XP_011513411.1:p.Ala82Pro
XM_011515110.1:c.205G>C	XP_011513412.1:p.Ala69Pro
XM_011515111.1:c.178G>C	XP_011513413.1:p.Ala60Pro
XM_011515112.1:c.586G>C	XP_011513414.1:p.Ala196Pro
XM_011515105.2:c.586G>C	XP_011513407.1:p.Ala196Pro
XM_011515106.2:c.547G>C	XP_011513408.1:p.Ala183Pro
XM_011515107.2:c.361G>C	XP_011513409.1:p.Ala121Pro
XM_017011721.1:c.604G>C	XP_016867210.1:p.Ala202Pro
XM_017011722.1:c.379G>C	XP_016867211.1:p.Ala127Pro
NM_004067.4:c.283G>C MANE Select	NP_004058.1:p.Ala95Pro
NM_001293070.2:c.322G>C	NP_001279999.1:p.Ala108Pro
NM_001293071.2:c.178G>C	NP_001280000.1:p.Ala60Pro
NM_001293072.2:c.238G>C	NP_001280001.1:p.Ala80Pro
NM_001398427.1:c.-156G>C	NP_001385356.1:n.-156G>C