Canonical Allele Identifier: CA367241590

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398381-G-A
• MyVariant Identifiers: chr7:g.29437997G>A (hg19) ; chr7:g.29398381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398381G>A , CM000669.2:g.29398381G>A	GRCh38
NC_000007.13:g.29437997G>A , CM000669.1:g.29437997G>A	GRCh37
NC_000007.12:g.29404522G>A	NCBI36
NG_029365.2:g.256835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.224G>A	ENSP00000386968.2:p.Gly75Glu
ENST00000439384.6:n.447G>A
ENST00000446446.6:c.185G>A	ENSP00000396867.2:p.Gly62Glu
ENST00000706158.1:c.*129G>A	ENSP00000516236.1:n.*129G>A
ENST00000706159.1:c.97G>A	ENSP00000516237.1:p.Gly33Arg
ENST00000706160.1:c.185G>A	ENSP00000516238.1:p.Gly62Glu
ENST00000706161.1:c.263G>A	ENSP00000516239.1:p.Gly88Glu
ENST00000706162.1:c.185G>A	ENSP00000516240.1:p.Gly62Glu
ENST00000706163.1:c.50-81898G>A	ENSP00000516241.1:n.50-81898G>A
ENST00000222792.11:c.185G>A MANE Select	ENSP00000222792.7:p.Gly62Glu
ENST00000644824.1:c.410G>A	ENSP00000495614.1:p.Gly137Glu
ENST00000222792.10:c.185G>A	ENSP00000222792.6:p.Gly62Glu
ENST00000409350.5:c.224G>A	ENSP00000386968.1:p.Gly75Glu
ENST00000409922.5:n.396G>A
ENST00000409964.6:n.384G>A
ENST00000412536.5:n.205G>A
ENST00000435288.6:c.168+4679G>A	ENSP00000400282.3:n.168+4679G>A
ENST00000439384.5:c.410G>A	ENSP00000409843.1:p.Gly137Glu
ENST00000474070.5:c.285G>A
ENST00000478128.6:n.279G>A
ENST00000482820.6:n.394G>A
ENST00000491856.1:n.1734G>A
ENST00000495789.6:c.185G>A	ENSP00000438587.2:p.Gly62Glu
ENST00000539389.5:c.185G>A	ENSP00000440526.2:p.Gly62Glu
ENST00000539406.5:c.185G>A	ENSP00000444063.2:p.Gly62Glu
NM_001293069.1:c.410G>A	NP_001279998.1:p.Gly137Glu
NM_001293070.1:c.224G>A	NP_001279999.1:p.Gly75Glu
NM_001293071.1:c.80G>A	NP_001280000.1:p.Gly27Glu
NM_001293072.1:c.140G>A	NP_001280001.1:p.Gly47Glu
NM_004067.3:c.185G>A	NP_004058.1:p.Gly62Glu
XM_011515105.1:c.488G>A	XP_011513407.1:p.Gly163Glu
XM_011515106.1:c.449G>A	XP_011513408.1:p.Gly150Glu
XM_011515107.1:c.263G>A	XP_011513409.1:p.Gly88Glu
XM_011515108.1:c.185G>A	XP_011513410.1:p.Gly62Glu
XM_011515109.1:c.146G>A	XP_011513411.1:p.Gly49Glu
XM_011515110.1:c.107G>A	XP_011513412.1:p.Gly36Glu
XM_011515111.1:c.80G>A	XP_011513413.1:p.Gly27Glu
XM_011515112.1:c.488G>A	XP_011513414.1:p.Gly163Glu
XM_011515105.2:c.488G>A	XP_011513407.1:p.Gly163Glu
XM_011515106.2:c.449G>A	XP_011513408.1:p.Gly150Glu
XM_011515107.2:c.263G>A	XP_011513409.1:p.Gly88Glu
XM_017011721.1:c.506G>A	XP_016867210.1:p.Gly169Glu
XM_017011722.1:c.281G>A	XP_016867211.1:p.Gly94Glu
NM_004067.4:c.185G>A MANE Select	NP_004058.1:p.Gly62Glu
NM_001293070.2:c.224G>A	NP_001279999.1:p.Gly75Glu
NM_001293071.2:c.80G>A	NP_001280000.1:p.Gly27Glu
NM_001293072.2:c.140G>A	NP_001280001.1:p.Gly47Glu
NM_001398427.1:c.-254G>A	NP_001385356.1:n.-254G>A