Canonical Allele Identifier: CA156540756

Gene: CHN2

Linked Data

• dbSNP Id: rs749694587
• gnomAD v4: 7-29398417-G-T
• MyVariant Identifiers: chr7:g.29438033G>T (hg19) ; chr7:g.29398417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398417G>T , CM000669.2:g.29398417G>T	GRCh38
NC_000007.13:g.29438033G>T , CM000669.1:g.29438033G>T	GRCh37
NC_000007.12:g.29404558G>T	NCBI36
NG_029365.2:g.256871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.260G>T	ENSP00000386968.2:p.Gly87Val
ENST00000439384.6:n.483G>T
ENST00000446446.6:c.221G>T	ENSP00000396867.2:p.Gly74Val
ENST00000706158.1:c.*165G>T	ENSP00000516236.1:n.*165G>T
ENST00000706159.1:c.133G>T	ENSP00000516237.1:p.Glu45Ter
ENST00000706160.1:c.221G>T	ENSP00000516238.1:p.Gly74Val
ENST00000706161.1:c.299G>T	ENSP00000516239.1:p.Gly100Val
ENST00000706162.1:c.221G>T	ENSP00000516240.1:p.Gly74Val
ENST00000706163.1:c.50-81862G>T	ENSP00000516241.1:n.50-81862G>T
ENST00000222792.11:c.221G>T MANE Select	ENSP00000222792.7:p.Gly74Val
ENST00000644824.1:c.446G>T	ENSP00000495614.1:p.Gly149Val
ENST00000222792.10:c.221G>T	ENSP00000222792.6:p.Gly74Val
ENST00000409350.5:c.260G>T	ENSP00000386968.1:p.Gly87Val
ENST00000409922.5:n.432G>T
ENST00000409964.6:n.420G>T
ENST00000412536.5:n.241G>T
ENST00000435288.6:c.168+4715G>T	ENSP00000400282.3:n.168+4715G>T
ENST00000439384.5:c.446G>T	ENSP00000409843.1:p.Gly149Val
ENST00000474070.5:c.321G>T
ENST00000478128.6:n.315G>T
ENST00000482820.6:n.430G>T
ENST00000491856.1:n.1770G>T
ENST00000495789.6:c.221G>T	ENSP00000438587.2:p.Gly74Val
ENST00000539389.5:c.221G>T	ENSP00000440526.2:p.Gly74Val
ENST00000539406.5:c.221G>T	ENSP00000444063.2:p.Gly74Val
NM_001293069.1:c.446G>T	NP_001279998.1:p.Gly149Val
NM_001293070.1:c.260G>T	NP_001279999.1:p.Gly87Val
NM_001293071.1:c.116G>T	NP_001280000.1:p.Gly39Val
NM_001293072.1:c.176G>T	NP_001280001.1:p.Gly59Val
NM_004067.3:c.221G>T	NP_004058.1:p.Gly74Val
XM_011515105.1:c.524G>T	XP_011513407.1:p.Gly175Val
XM_011515106.1:c.485G>T	XP_011513408.1:p.Gly162Val
XM_011515107.1:c.299G>T	XP_011513409.1:p.Gly100Val
XM_011515108.1:c.221G>T	XP_011513410.1:p.Gly74Val
XM_011515109.1:c.182G>T	XP_011513411.1:p.Gly61Val
XM_011515110.1:c.143G>T	XP_011513412.1:p.Gly48Val
XM_011515111.1:c.116G>T	XP_011513413.1:p.Gly39Val
XM_011515112.1:c.524G>T	XP_011513414.1:p.Gly175Val
XM_011515105.2:c.524G>T	XP_011513407.1:p.Gly175Val
XM_011515106.2:c.485G>T	XP_011513408.1:p.Gly162Val
XM_011515107.2:c.299G>T	XP_011513409.1:p.Gly100Val
XM_017011721.1:c.542G>T	XP_016867210.1:p.Gly181Val
XM_017011722.1:c.317G>T	XP_016867211.1:p.Gly106Val
NM_004067.4:c.221G>T MANE Select	NP_004058.1:p.Gly74Val
NM_001293070.2:c.260G>T	NP_001279999.1:p.Gly87Val
NM_001293071.2:c.116G>T	NP_001280000.1:p.Gly39Val
NM_001293072.2:c.176G>T	NP_001280001.1:p.Gly59Val
NM_001398427.1:c.-218G>T	NP_001385356.1:n.-218G>T