Canonical Allele Identifier: CA367241730

Gene: CHN2

Linked Data

• dbSNP Id: rs1488205047
• gnomAD v2: 7-29438064-A-C
• gnomAD v4: 7-29398448-A-C
• MyVariant Identifiers: chr7:g.29438064A>C (hg19) ; chr7:g.29398448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398448A>C , CM000669.2:g.29398448A>C	GRCh38
NC_000007.13:g.29438064A>C , CM000669.1:g.29438064A>C	GRCh37
NC_000007.12:g.29404589A>C	NCBI36
NG_029365.2:g.256902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.291A>C	ENSP00000386968.2:p.Glu97Asp
ENST00000439384.6:n.514A>C
ENST00000446446.6:c.252A>C	ENSP00000396867.2:p.Glu84Asp
ENST00000706158.1:c.*196A>C	ENSP00000516236.1:n.*196A>C
ENST00000706159.1:c.164A>C	ENSP00000516237.1:p.Lys55Thr
ENST00000706160.1:c.252A>C	ENSP00000516238.1:p.Glu84Asp
ENST00000706161.1:c.330A>C	ENSP00000516239.1:p.Glu110Asp
ENST00000706162.1:c.252A>C	ENSP00000516240.1:p.Glu84Asp
ENST00000706163.1:c.50-81831A>C	ENSP00000516241.1:n.50-81831A>C
ENST00000222792.11:c.252A>C MANE Select	ENSP00000222792.7:p.Glu84Asp
ENST00000644824.1:c.477A>C	ENSP00000495614.1:p.Glu159Asp
ENST00000222792.10:c.252A>C	ENSP00000222792.6:p.Glu84Asp
ENST00000409350.5:c.291A>C	ENSP00000386968.1:p.Glu97Asp
ENST00000409922.5:n.463A>C
ENST00000409964.6:n.451A>C
ENST00000412536.5:n.272A>C
ENST00000435288.6:c.168+4746A>C	ENSP00000400282.3:n.168+4746A>C
ENST00000439384.5:c.477A>C	ENSP00000409843.1:p.Glu159Asp
ENST00000474070.5:c.352A>C
ENST00000478128.6:n.346A>C
ENST00000482820.6:n.461A>C
ENST00000491856.1:n.1801A>C
ENST00000495789.6:c.252A>C	ENSP00000438587.2:p.Glu84Asp
ENST00000539389.5:c.252A>C	ENSP00000440526.2:p.Glu84Asp
ENST00000539406.5:c.252A>C	ENSP00000444063.2:p.Glu84Asp
NM_001293069.1:c.477A>C	NP_001279998.1:p.Glu159Asp
NM_001293070.1:c.291A>C	NP_001279999.1:p.Glu97Asp
NM_001293071.1:c.147A>C	NP_001280000.1:p.Glu49Asp
NM_001293072.1:c.207A>C	NP_001280001.1:p.Glu69Asp
NM_004067.3:c.252A>C	NP_004058.1:p.Glu84Asp
XM_011515105.1:c.555A>C	XP_011513407.1:p.Glu185Asp
XM_011515106.1:c.516A>C	XP_011513408.1:p.Glu172Asp
XM_011515107.1:c.330A>C	XP_011513409.1:p.Glu110Asp
XM_011515108.1:c.252A>C	XP_011513410.1:p.Glu84Asp
XM_011515109.1:c.213A>C	XP_011513411.1:p.Glu71Asp
XM_011515110.1:c.174A>C	XP_011513412.1:p.Glu58Asp
XM_011515111.1:c.147A>C	XP_011513413.1:p.Glu49Asp
XM_011515112.1:c.555A>C	XP_011513414.1:p.Glu185Asp
XM_011515105.2:c.555A>C	XP_011513407.1:p.Glu185Asp
XM_011515106.2:c.516A>C	XP_011513408.1:p.Glu172Asp
XM_011515107.2:c.330A>C	XP_011513409.1:p.Glu110Asp
XM_017011721.1:c.573A>C	XP_016867210.1:p.Glu191Asp
XM_017011722.1:c.348A>C	XP_016867211.1:p.Glu116Asp
NM_004067.4:c.252A>C MANE Select	NP_004058.1:p.Glu84Asp
NM_001293070.2:c.291A>C	NP_001279999.1:p.Glu97Asp
NM_001293071.2:c.147A>C	NP_001280000.1:p.Glu49Asp
NM_001293072.2:c.207A>C	NP_001280001.1:p.Glu69Asp
NM_001398427.1:c.-187A>C	NP_001385356.1:n.-187A>C