Canonical Allele Identifier: CA367241739

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398451-C-G
• MyVariant Identifiers: chr7:g.29438067C>G (hg19) ; chr7:g.29398451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398451C>G , CM000669.2:g.29398451C>G	GRCh38
NC_000007.13:g.29438067C>G , CM000669.1:g.29438067C>G	GRCh37
NC_000007.12:g.29404592C>G	NCBI36
NG_029365.2:g.256905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.294C>G	ENSP00000386968.2:p.Ser98Arg
ENST00000439384.6:n.517C>G
ENST00000446446.6:c.255C>G	ENSP00000396867.2:p.Ser85Arg
ENST00000706158.1:c.*199C>G	ENSP00000516236.1:n.*199C>G
ENST00000706159.1:c.167C>G	ENSP00000516237.1:p.Ala56Gly
ENST00000706160.1:c.255C>G	ENSP00000516238.1:p.Ser85Arg
ENST00000706161.1:c.333C>G	ENSP00000516239.1:p.Ser111Arg
ENST00000706162.1:c.255C>G	ENSP00000516240.1:p.Ser85Arg
ENST00000706163.1:c.50-81828C>G	ENSP00000516241.1:n.50-81828C>G
ENST00000222792.11:c.255C>G MANE Select	ENSP00000222792.7:p.Ser85Arg
ENST00000644824.1:c.480C>G	ENSP00000495614.1:p.Ser160Arg
ENST00000222792.10:c.255C>G	ENSP00000222792.6:p.Ser85Arg
ENST00000409350.5:c.294C>G	ENSP00000386968.1:p.Ser98Arg
ENST00000409922.5:n.466C>G
ENST00000409964.6:n.454C>G
ENST00000412536.5:n.275C>G
ENST00000435288.6:c.168+4749C>G	ENSP00000400282.3:n.168+4749C>G
ENST00000439384.5:c.480C>G	ENSP00000409843.1:p.Ser160Arg
ENST00000474070.5:c.355C>G
ENST00000478128.6:n.349C>G
ENST00000482820.6:n.464C>G
ENST00000491856.1:n.1804C>G
ENST00000495789.6:c.255C>G	ENSP00000438587.2:p.Ser85Arg
ENST00000539389.5:c.255C>G	ENSP00000440526.2:p.Ser85Arg
ENST00000539406.5:c.255C>G	ENSP00000444063.2:p.Ser85Arg
NM_001293069.1:c.480C>G	NP_001279998.1:p.Ser160Arg
NM_001293070.1:c.294C>G	NP_001279999.1:p.Ser98Arg
NM_001293071.1:c.150C>G	NP_001280000.1:p.Ser50Arg
NM_001293072.1:c.210C>G	NP_001280001.1:p.Ser70Arg
NM_004067.3:c.255C>G	NP_004058.1:p.Ser85Arg
XM_011515105.1:c.558C>G	XP_011513407.1:p.Ser186Arg
XM_011515106.1:c.519C>G	XP_011513408.1:p.Ser173Arg
XM_011515107.1:c.333C>G	XP_011513409.1:p.Ser111Arg
XM_011515108.1:c.255C>G	XP_011513410.1:p.Ser85Arg
XM_011515109.1:c.216C>G	XP_011513411.1:p.Ser72Arg
XM_011515110.1:c.177C>G	XP_011513412.1:p.Ser59Arg
XM_011515111.1:c.150C>G	XP_011513413.1:p.Ser50Arg
XM_011515112.1:c.558C>G	XP_011513414.1:p.Ser186Arg
XM_011515105.2:c.558C>G	XP_011513407.1:p.Ser186Arg
XM_011515106.2:c.519C>G	XP_011513408.1:p.Ser173Arg
XM_011515107.2:c.333C>G	XP_011513409.1:p.Ser111Arg
XM_017011721.1:c.576C>G	XP_016867210.1:p.Ser192Arg
XM_017011722.1:c.351C>G	XP_016867211.1:p.Ser117Arg
NM_004067.4:c.255C>G MANE Select	NP_004058.1:p.Ser85Arg
NM_001293070.2:c.294C>G	NP_001279999.1:p.Ser98Arg
NM_001293071.2:c.150C>G	NP_001280000.1:p.Ser50Arg
NM_001293072.2:c.210C>G	NP_001280001.1:p.Ser70Arg
NM_001398427.1:c.-184C>G	NP_001385356.1:n.-184C>G