Canonical Allele Identifier: CA367241813

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438102G>C (hg19) ; chr7:g.29398486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398486G>C , CM000669.2:g.29398486G>C	GRCh38
NC_000007.13:g.29438102G>C , CM000669.1:g.29438102G>C	GRCh37
NC_000007.12:g.29404627G>C	NCBI36
NG_029365.2:g.256940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.329G>C	ENSP00000386968.2:p.Arg110Thr
ENST00000439384.6:n.552G>C
ENST00000446446.6:c.290G>C	ENSP00000396867.2:p.Arg97Thr
ENST00000706158.1:c.*234G>C	ENSP00000516236.1:n.*234G>C
ENST00000706159.1:c.202G>C	ENSP00000516237.1:p.Gly68Arg
ENST00000706160.1:c.290G>C	ENSP00000516238.1:p.Arg97Thr
ENST00000706161.1:c.368G>C	ENSP00000516239.1:p.Arg123Thr
ENST00000706162.1:c.290G>C	ENSP00000516240.1:p.Arg97Thr
ENST00000706163.1:c.50-81793G>C	ENSP00000516241.1:n.50-81793G>C
ENST00000222792.11:c.290G>C MANE Select	ENSP00000222792.7:p.Arg97Thr
ENST00000644824.1:c.515G>C	ENSP00000495614.1:p.Arg172Thr
ENST00000222792.10:c.290G>C	ENSP00000222792.6:p.Arg97Thr
ENST00000409350.5:c.329G>C	ENSP00000386968.1:p.Arg110Thr
ENST00000409922.5:n.501G>C
ENST00000409964.6:n.489G>C
ENST00000412536.5:n.310G>C
ENST00000435288.6:c.168+4784G>C	ENSP00000400282.3:n.168+4784G>C
ENST00000439384.5:c.515G>C	ENSP00000409843.1:p.Arg172Thr
ENST00000474070.5:c.390G>C
ENST00000478128.6:n.384G>C
ENST00000491856.1:n.1839G>C
ENST00000495789.6:c.290G>C	ENSP00000438587.2:p.Arg97Thr
ENST00000539389.5:c.290G>C	ENSP00000440526.2:p.Arg97Thr
ENST00000539406.5:c.290G>C	ENSP00000444063.2:p.Arg97Thr
NM_001293069.1:c.515G>C	NP_001279998.1:p.Arg172Thr
NM_001293070.1:c.329G>C	NP_001279999.1:p.Arg110Thr
NM_001293071.1:c.185G>C	NP_001280000.1:p.Arg62Thr
NM_001293072.1:c.245G>C	NP_001280001.1:p.Arg82Thr
NM_004067.3:c.290G>C	NP_004058.1:p.Arg97Thr
XM_011515105.1:c.593G>C	XP_011513407.1:p.Arg198Thr
XM_011515106.1:c.554G>C	XP_011513408.1:p.Arg185Thr
XM_011515107.1:c.368G>C	XP_011513409.1:p.Arg123Thr
XM_011515108.1:c.290G>C	XP_011513410.1:p.Arg97Thr
XM_011515109.1:c.251G>C	XP_011513411.1:p.Arg84Thr
XM_011515110.1:c.212G>C	XP_011513412.1:p.Arg71Thr
XM_011515111.1:c.185G>C	XP_011513413.1:p.Arg62Thr
XM_011515112.1:c.593G>C	XP_011513414.1:p.Arg198Thr
XM_011515105.2:c.593G>C	XP_011513407.1:p.Arg198Thr
XM_011515106.2:c.554G>C	XP_011513408.1:p.Arg185Thr
XM_011515107.2:c.368G>C	XP_011513409.1:p.Arg123Thr
XM_017011721.1:c.611G>C	XP_016867210.1:p.Arg204Thr
XM_017011722.1:c.386G>C	XP_016867211.1:p.Arg129Thr
NM_004067.4:c.290G>C MANE Select	NP_004058.1:p.Arg97Thr
NM_001293070.2:c.329G>C	NP_001279999.1:p.Arg110Thr
NM_001293071.2:c.185G>C	NP_001280000.1:p.Arg62Thr
NM_001293072.2:c.245G>C	NP_001280001.1:p.Arg82Thr
NM_001398427.1:c.-149G>C	NP_001385356.1:n.-149G>C