Canonical Allele Identifier: CA367241629

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398400-G-T
• MyVariant Identifiers: chr7:g.29438016G>T (hg19) ; chr7:g.29398400G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398400G>T , CM000669.2:g.29398400G>T	GRCh38
NC_000007.13:g.29438016G>T , CM000669.1:g.29438016G>T	GRCh37
NC_000007.12:g.29404541G>T	NCBI36
NG_029365.2:g.256854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.243G>T	ENSP00000386968.2:p.Gln81His
ENST00000439384.6:n.466G>T
ENST00000446446.6:c.204G>T	ENSP00000396867.2:p.Gln68His
ENST00000706158.1:c.*148G>T	ENSP00000516236.1:n.*148G>T
ENST00000706159.1:c.116G>T	ENSP00000516237.1:p.Arg39Met
ENST00000706160.1:c.204G>T	ENSP00000516238.1:p.Gln68His
ENST00000706161.1:c.282G>T	ENSP00000516239.1:p.Gln94His
ENST00000706162.1:c.204G>T	ENSP00000516240.1:p.Gln68His
ENST00000706163.1:c.50-81879G>T	ENSP00000516241.1:n.50-81879G>T
ENST00000222792.11:c.204G>T MANE Select	ENSP00000222792.7:p.Gln68His
ENST00000644824.1:c.429G>T	ENSP00000495614.1:p.Gln143His
ENST00000222792.10:c.204G>T	ENSP00000222792.6:p.Gln68His
ENST00000409350.5:c.243G>T	ENSP00000386968.1:p.Gln81His
ENST00000409922.5:n.415G>T
ENST00000409964.6:n.403G>T
ENST00000412536.5:n.224G>T
ENST00000435288.6:c.168+4698G>T	ENSP00000400282.3:n.168+4698G>T
ENST00000439384.5:c.429G>T	ENSP00000409843.1:p.Gln143His
ENST00000474070.5:c.304G>T
ENST00000478128.6:n.298G>T
ENST00000482820.6:n.413G>T
ENST00000491856.1:n.1753G>T
ENST00000495789.6:c.204G>T	ENSP00000438587.2:p.Gln68His
ENST00000539389.5:c.204G>T	ENSP00000440526.2:p.Gln68His
ENST00000539406.5:c.204G>T	ENSP00000444063.2:p.Gln68His
NM_001293069.1:c.429G>T	NP_001279998.1:p.Gln143His
NM_001293070.1:c.243G>T	NP_001279999.1:p.Gln81His
NM_001293071.1:c.99G>T	NP_001280000.1:p.Gln33His
NM_001293072.1:c.159G>T	NP_001280001.1:p.Gln53His
NM_004067.3:c.204G>T	NP_004058.1:p.Gln68His
XM_011515105.1:c.507G>T	XP_011513407.1:p.Gln169His
XM_011515106.1:c.468G>T	XP_011513408.1:p.Gln156His
XM_011515107.1:c.282G>T	XP_011513409.1:p.Gln94His
XM_011515108.1:c.204G>T	XP_011513410.1:p.Gln68His
XM_011515109.1:c.165G>T	XP_011513411.1:p.Gln55His
XM_011515110.1:c.126G>T	XP_011513412.1:p.Gln42His
XM_011515111.1:c.99G>T	XP_011513413.1:p.Gln33His
XM_011515112.1:c.507G>T	XP_011513414.1:p.Gln169His
XM_011515105.2:c.507G>T	XP_011513407.1:p.Gln169His
XM_011515106.2:c.468G>T	XP_011513408.1:p.Gln156His
XM_011515107.2:c.282G>T	XP_011513409.1:p.Gln94His
XM_017011721.1:c.525G>T	XP_016867210.1:p.Gln175His
XM_017011722.1:c.300G>T	XP_016867211.1:p.Gln100His
NM_004067.4:c.204G>T MANE Select	NP_004058.1:p.Gln68His
NM_001293070.2:c.243G>T	NP_001279999.1:p.Gln81His
NM_001293071.2:c.99G>T	NP_001280000.1:p.Gln33His
NM_001293072.2:c.159G>T	NP_001280001.1:p.Gln53His
NM_001398427.1:c.-235G>T	NP_001385356.1:n.-235G>T