Canonical Allele Identifier: CA367241717

Gene: CHN2

Linked Data

• dbSNP Id: rs1233581503
• gnomAD v2: 7-29438059-A-G
• gnomAD v4: 7-29398443-A-G
• MyVariant Identifiers: chr7:g.29438059A>G (hg19) ; chr7:g.29398443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398443A>G , CM000669.2:g.29398443A>G	GRCh38
NC_000007.13:g.29438059A>G , CM000669.1:g.29438059A>G	GRCh37
NC_000007.12:g.29404584A>G	NCBI36
NG_029365.2:g.256897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.286A>G	ENSP00000386968.2:p.Arg96Gly
ENST00000439384.6:n.509A>G
ENST00000446446.6:c.247A>G	ENSP00000396867.2:p.Arg83Gly
ENST00000706158.1:c.*191A>G	ENSP00000516236.1:n.*191A>G
ENST00000706159.1:c.159A>G	ENSP00000516237.1:p.Leu53=
ENST00000706160.1:c.247A>G	ENSP00000516238.1:p.Arg83Gly
ENST00000706161.1:c.325A>G	ENSP00000516239.1:p.Arg109Gly
ENST00000706162.1:c.247A>G	ENSP00000516240.1:p.Arg83Gly
ENST00000706163.1:c.50-81836A>G	ENSP00000516241.1:n.50-81836A>G
ENST00000222792.11:c.247A>G MANE Select	ENSP00000222792.7:p.Arg83Gly
ENST00000644824.1:c.472A>G	ENSP00000495614.1:p.Arg158Gly
ENST00000222792.10:c.247A>G	ENSP00000222792.6:p.Arg83Gly
ENST00000409350.5:c.286A>G	ENSP00000386968.1:p.Arg96Gly
ENST00000409922.5:n.458A>G
ENST00000409964.6:n.446A>G
ENST00000412536.5:n.267A>G
ENST00000435288.6:c.168+4741A>G	ENSP00000400282.3:n.168+4741A>G
ENST00000439384.5:c.472A>G	ENSP00000409843.1:p.Arg158Gly
ENST00000474070.5:c.347A>G
ENST00000478128.6:n.341A>G
ENST00000482820.6:n.456A>G
ENST00000491856.1:n.1796A>G
ENST00000495789.6:c.247A>G	ENSP00000438587.2:p.Arg83Gly
ENST00000539389.5:c.247A>G	ENSP00000440526.2:p.Arg83Gly
ENST00000539406.5:c.247A>G	ENSP00000444063.2:p.Arg83Gly
NM_001293069.1:c.472A>G	NP_001279998.1:p.Arg158Gly
NM_001293070.1:c.286A>G	NP_001279999.1:p.Arg96Gly
NM_001293071.1:c.142A>G	NP_001280000.1:p.Arg48Gly
NM_001293072.1:c.202A>G	NP_001280001.1:p.Arg68Gly
NM_004067.3:c.247A>G	NP_004058.1:p.Arg83Gly
XM_011515105.1:c.550A>G	XP_011513407.1:p.Arg184Gly
XM_011515106.1:c.511A>G	XP_011513408.1:p.Arg171Gly
XM_011515107.1:c.325A>G	XP_011513409.1:p.Arg109Gly
XM_011515108.1:c.247A>G	XP_011513410.1:p.Arg83Gly
XM_011515109.1:c.208A>G	XP_011513411.1:p.Arg70Gly
XM_011515110.1:c.169A>G	XP_011513412.1:p.Arg57Gly
XM_011515111.1:c.142A>G	XP_011513413.1:p.Arg48Gly
XM_011515112.1:c.550A>G	XP_011513414.1:p.Arg184Gly
XM_011515105.2:c.550A>G	XP_011513407.1:p.Arg184Gly
XM_011515106.2:c.511A>G	XP_011513408.1:p.Arg171Gly
XM_011515107.2:c.325A>G	XP_011513409.1:p.Arg109Gly
XM_017011721.1:c.568A>G	XP_016867210.1:p.Arg190Gly
XM_017011722.1:c.343A>G	XP_016867211.1:p.Arg115Gly
NM_004067.4:c.247A>G MANE Select	NP_004058.1:p.Arg83Gly
NM_001293070.2:c.286A>G	NP_001279999.1:p.Arg96Gly
NM_001293071.2:c.142A>G	NP_001280000.1:p.Arg48Gly
NM_001293072.2:c.202A>G	NP_001280001.1:p.Arg68Gly
NM_001398427.1:c.-192A>G	NP_001385356.1:n.-192A>G