Canonical Allele Identifier: CA4202036

Gene: CHN2

Linked Data

• dbSNP Id: rs753494781
• ExAC: 7:29438060 G / GAGTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCC
• MyVariant Identifiers: chr7:g.29438060_29438061insAGTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCC (hg19) ; chr7:g.29398444_29398445insAGTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398446_29398447insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG , CM000669.2:g.29398446_29398447insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	GRCh38
NC_000007.13:g.29438062_29438063insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG , CM000669.1:g.29438062_29438063insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	GRCh37
NC_000007.12:g.29404587_29404588insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NCBI36
NG_029365.2:g.256900_256901insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.289_290insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000386968.2:p.Glu97ValfsTer4
ENST00000439384.6:n.512_513insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000446446.6:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000396867.2:p.Glu84ValfsTer4
ENST00000706158.1:c.*194_*195insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000516236.1:n.*194_*195insTCAGCTGTTGAGATTTAAAATCAAAATTT...
ENST00000706159.1:c.162_163insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000706160.1:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000516238.1:p.Glu84ValfsTer4
ENST00000706161.1:c.328_329insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000516239.1:p.Glu110ValfsTer4
ENST00000706162.1:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000516240.1:p.Glu84ValfsTer4
ENST00000706163.1:c.50-81833_50-81832insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000516241.1:n.50-81833_50-81832insTCAGCTGTTGAGATTTAAAAT...
ENST00000222792.11:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG MANE Select	ENSP00000222792.7:p.Glu84ValfsTer4
ENST00000644824.1:c.475_476insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000495614.1:p.Glu159ValfsTer4
ENST00000222792.10:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000222792.6:p.Glu84ValfsTer4
ENST00000409350.5:c.289_290insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000386968.1:p.Glu97ValfsTer4
ENST00000409922.5:n.461_462insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000409964.6:n.449_450insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000412536.5:n.270_271insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000435288.6:c.168+4744_168+4745insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000400282.3:n.168+4744_168+4745insTCAGCTGTTGAGATTTAAAAT...
ENST00000439384.5:c.475_476insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000409843.1:p.Glu159ValfsTer4
ENST00000474070.5:c.350_351insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000478128.6:n.344_345insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000482820.6:n.459_460insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000491856.1:n.1799_1800insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG
ENST00000495789.6:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000438587.2:p.Glu84ValfsTer4
ENST00000539389.5:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000440526.2:p.Glu84ValfsTer4
ENST00000539406.5:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	ENSP00000444063.2:p.Glu84ValfsTer4
NM_001293069.1:c.475_476insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001279998.1:p.Glu159ValfsTer4
NM_001293070.1:c.289_290insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001279999.1:p.Glu97ValfsTer4
NM_001293071.1:c.145_146insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001280000.1:p.Glu49ValfsTer4
NM_001293072.1:c.205_206insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001280001.1:p.Glu69ValfsTer4
NM_004067.3:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_004058.1:p.Glu84ValfsTer4
XM_011515105.1:c.553_554insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513407.1:p.Glu185ValfsTer4
XM_011515106.1:c.514_515insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513408.1:p.Glu172ValfsTer4
XM_011515107.1:c.328_329insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513409.1:p.Glu110ValfsTer4
XM_011515108.1:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513410.1:p.Glu84ValfsTer4
XM_011515109.1:c.211_212insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513411.1:p.Glu71ValfsTer4
XM_011515110.1:c.172_173insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513412.1:p.Glu58ValfsTer4
XM_011515111.1:c.145_146insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513413.1:p.Glu49ValfsTer4
XM_011515112.1:c.553_554insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513414.1:p.Glu185ValfsTer4
XM_011515105.2:c.553_554insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513407.1:p.Glu185ValfsTer4
XM_011515106.2:c.514_515insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513408.1:p.Glu172ValfsTer4
XM_011515107.2:c.328_329insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_011513409.1:p.Glu110ValfsTer4
XM_017011721.1:c.571_572insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_016867210.1:p.Glu191ValfsTer4
XM_017011722.1:c.346_347insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	XP_016867211.1:p.Glu116ValfsTer4
NM_004067.4:c.250_251insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG MANE Select	NP_004058.1:p.Glu84ValfsTer4
NM_001293070.2:c.289_290insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001279999.1:p.Glu97ValfsTer4
NM_001293071.2:c.145_146insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001280000.1:p.Glu49ValfsTer4
NM_001293072.2:c.205_206insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001280001.1:p.Glu69ValfsTer4
NM_001398427.1:c.-189_-188insTCAGCTGTTGAGATTTAAAATCAAAATTTGGGAAGCCAG	NP_001385356.1:n.-189_-188insTCAGCTGTTGAGATTTAAAATCAAAATTTGGG...