Canonical Allele Identifier: CA454421562

Gene: CHN2

Linked Data

• dbSNP Id: rs1179071642
• gnomAD v2: 7-29437995-T-C
• gnomAD v4: 7-29398379-T-C
• MyVariant Identifiers: chr7:g.29437995T>C (hg19) ; chr7:g.29398379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398379T>C , CM000669.2:g.29398379T>C	GRCh38
NC_000007.13:g.29437995T>C , CM000669.1:g.29437995T>C	GRCh37
NC_000007.12:g.29404520T>C	NCBI36
NG_029365.2:g.256833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.222T>C	ENSP00000386968.2:p.His74=
ENST00000439384.6:n.445T>C
ENST00000446446.6:c.183T>C	ENSP00000396867.2:p.His61=
ENST00000706158.1:c.*127T>C	ENSP00000516236.1:n.*127T>C
ENST00000706159.1:c.95T>C	ENSP00000516237.1:p.Met32Thr
ENST00000706160.1:c.183T>C	ENSP00000516238.1:p.His61=
ENST00000706161.1:c.261T>C	ENSP00000516239.1:p.His87=
ENST00000706162.1:c.183T>C	ENSP00000516240.1:p.His61=
ENST00000706163.1:c.50-81900T>C	ENSP00000516241.1:n.50-81900T>C
ENST00000222792.11:c.183T>C MANE Select	ENSP00000222792.7:p.His61=
ENST00000644824.1:c.408T>C	ENSP00000495614.1:p.His136=
ENST00000222792.10:c.183T>C	ENSP00000222792.6:p.His61=
ENST00000409350.5:c.222T>C	ENSP00000386968.1:p.His74=
ENST00000409922.5:n.394T>C
ENST00000409964.6:n.382T>C
ENST00000412536.5:n.203T>C
ENST00000435288.6:c.168+4677T>C	ENSP00000400282.3:n.168+4677T>C
ENST00000439384.5:c.408T>C	ENSP00000409843.1:p.His136=
ENST00000474070.5:c.283T>C
ENST00000478128.6:n.277T>C
ENST00000482820.6:n.392T>C
ENST00000491856.1:n.1732T>C
ENST00000495789.6:c.183T>C	ENSP00000438587.2:p.His61=
ENST00000539389.5:c.183T>C	ENSP00000440526.2:p.His61=
ENST00000539406.5:c.183T>C	ENSP00000444063.2:p.His61=
NM_001293069.1:c.408T>C	NP_001279998.1:p.His136=
NM_001293070.1:c.222T>C	NP_001279999.1:p.His74=
NM_001293071.1:c.78T>C	NP_001280000.1:p.His26=
NM_001293072.1:c.138T>C	NP_001280001.1:p.His46=
NM_004067.3:c.183T>C	NP_004058.1:p.His61=
XM_011515105.1:c.486T>C	XP_011513407.1:p.His162=
XM_011515106.1:c.447T>C	XP_011513408.1:p.His149=
XM_011515107.1:c.261T>C	XP_011513409.1:p.His87=
XM_011515108.1:c.183T>C	XP_011513410.1:p.His61=
XM_011515109.1:c.144T>C	XP_011513411.1:p.His48=
XM_011515110.1:c.105T>C	XP_011513412.1:p.His35=
XM_011515111.1:c.78T>C	XP_011513413.1:p.His26=
XM_011515112.1:c.486T>C	XP_011513414.1:p.His162=
XM_011515105.2:c.486T>C	XP_011513407.1:p.His162=
XM_011515106.2:c.447T>C	XP_011513408.1:p.His149=
XM_011515107.2:c.261T>C	XP_011513409.1:p.His87=
XM_017011721.1:c.504T>C	XP_016867210.1:p.His168=
XM_017011722.1:c.279T>C	XP_016867211.1:p.His93=
NM_004067.4:c.183T>C MANE Select	NP_004058.1:p.His61=
NM_001293070.2:c.222T>C	NP_001279999.1:p.His74=
NM_001293071.2:c.78T>C	NP_001280000.1:p.His26=
NM_001293072.2:c.138T>C	NP_001280001.1:p.His46=
NM_001398427.1:c.-256T>C	NP_001385356.1:n.-256T>C