Canonical Allele Identifier: CA156540757

Gene: CHN2

Linked Data

• ClinVar Variation Id: 2307556
• ClinVar RCV Id: RCV004151446
• dbSNP Id: rs950872576
• gnomAD v2: 7-29438071-C-T
• gnomAD v3: 7-29398455-C-T
• gnomAD v4: 7-29398455-C-T
• COSMIC: COSM3880468 ; COSM3880469
• MyVariant Identifiers: chr7:g.29438071C>T (hg19) ; chr7:g.29398455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398455C>T , CM000669.2:g.29398455C>T	GRCh38
NC_000007.13:g.29438071C>T , CM000669.1:g.29438071C>T	GRCh37
NC_000007.12:g.29404596C>T	NCBI36
NG_029365.2:g.256909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.298C>T	ENSP00000386968.2:p.Arg100Trp
ENST00000439384.6:n.521C>T
ENST00000446446.6:c.259C>T	ENSP00000396867.2:p.Arg87Trp
ENST00000706158.1:c.*203C>T	ENSP00000516236.1:n.*203C>T
ENST00000706159.1:c.171C>T	ENSP00000516237.1:p.Ser57=
ENST00000706160.1:c.259C>T	ENSP00000516238.1:p.Arg87Trp
ENST00000706161.1:c.337C>T	ENSP00000516239.1:p.Arg113Trp
ENST00000706162.1:c.259C>T	ENSP00000516240.1:p.Arg87Trp
ENST00000706163.1:c.50-81824C>T	ENSP00000516241.1:n.50-81824C>T
ENST00000222792.11:c.259C>T MANE Select	ENSP00000222792.7:p.Arg87Trp
ENST00000644824.1:c.484C>T	ENSP00000495614.1:p.Arg162Trp
ENST00000222792.10:c.259C>T	ENSP00000222792.6:p.Arg87Trp
ENST00000409350.5:c.298C>T	ENSP00000386968.1:p.Arg100Trp
ENST00000409922.5:n.470C>T
ENST00000409964.6:n.458C>T
ENST00000412536.5:n.279C>T
ENST00000435288.6:c.168+4753C>T	ENSP00000400282.3:n.168+4753C>T
ENST00000439384.5:c.484C>T	ENSP00000409843.1:p.Arg162Trp
ENST00000474070.5:c.359C>T
ENST00000478128.6:n.353C>T
ENST00000482820.6:n.468C>T
ENST00000491856.1:n.1808C>T
ENST00000495789.6:c.259C>T	ENSP00000438587.2:p.Arg87Trp
ENST00000539389.5:c.259C>T	ENSP00000440526.2:p.Arg87Trp
ENST00000539406.5:c.259C>T	ENSP00000444063.2:p.Arg87Trp
NM_001293069.1:c.484C>T	NP_001279998.1:p.Arg162Trp
NM_001293070.1:c.298C>T	NP_001279999.1:p.Arg100Trp
NM_001293071.1:c.154C>T	NP_001280000.1:p.Arg52Trp
NM_001293072.1:c.214C>T	NP_001280001.1:p.Arg72Trp
NM_004067.3:c.259C>T	NP_004058.1:p.Arg87Trp
XM_011515105.1:c.562C>T	XP_011513407.1:p.Arg188Trp
XM_011515106.1:c.523C>T	XP_011513408.1:p.Arg175Trp
XM_011515107.1:c.337C>T	XP_011513409.1:p.Arg113Trp
XM_011515108.1:c.259C>T	XP_011513410.1:p.Arg87Trp
XM_011515109.1:c.220C>T	XP_011513411.1:p.Arg74Trp
XM_011515110.1:c.181C>T	XP_011513412.1:p.Arg61Trp
XM_011515111.1:c.154C>T	XP_011513413.1:p.Arg52Trp
XM_011515112.1:c.562C>T	XP_011513414.1:p.Arg188Trp
XM_011515105.2:c.562C>T	XP_011513407.1:p.Arg188Trp
XM_011515106.2:c.523C>T	XP_011513408.1:p.Arg175Trp
XM_011515107.2:c.337C>T	XP_011513409.1:p.Arg113Trp
XM_017011721.1:c.580C>T	XP_016867210.1:p.Arg194Trp
XM_017011722.1:c.355C>T	XP_016867211.1:p.Arg119Trp
NM_004067.4:c.259C>T MANE Select	NP_004058.1:p.Arg87Trp
NM_001293070.2:c.298C>T	NP_001279999.1:p.Arg100Trp
NM_001293071.2:c.154C>T	NP_001280000.1:p.Arg52Trp
NM_001293072.2:c.214C>T	NP_001280001.1:p.Arg72Trp
NM_001398427.1:c.-180C>T	NP_001385356.1:n.-180C>T