Canonical Allele Identifier: CA837393200

Gene: CHN2

Linked Data

• dbSNP Id: rs1420326808
• gnomAD v3: 7-29398060-G-GT
• gnomAD v4: 7-29398060-G-GT
• MyVariant Identifiers: chr7:g.29437676_29437677insT (hg19) ; chr7:g.29398060_29398061insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398060_29398061insT , CM000669.2:g.29398060_29398061insT	GRCh38
NC_000007.13:g.29437676_29437677insT , CM000669.1:g.29437676_29437677insT	GRCh37
NC_000007.12:g.29404201_29404202insT	NCBI36
NG_029365.2:g.256514_256515insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-313_216-312insT	ENSP00000386968.2:n.216-313_216-312insT
ENST00000439384.6:n.439-313_439-312insT
ENST00000446446.6:c.177-313_177-312insT	ENSP00000396867.2:n.177-313_177-312insT
ENST00000706158.1:c.*121-313_*121-312insT	ENSP00000516236.1:n.*121-313_*121-312insT
ENST00000706159.1:c.89-313_89-312insT	ENSP00000516237.1:n.89-313_89-312insT
ENST00000706160.1:c.177-313_177-312insT	ENSP00000516238.1:n.177-313_177-312insT
ENST00000706161.1:c.255-313_255-312insT	ENSP00000516239.1:n.255-313_255-312insT
ENST00000706162.1:c.177-313_177-312insT	ENSP00000516240.1:n.177-313_177-312insT
ENST00000706163.1:c.50-82219_50-82218insT	ENSP00000516241.1:n.50-82219_50-82218insT
ENST00000222792.11:c.177-313_177-312insT MANE Select	ENSP00000222792.7:n.177-313_177-312insT
ENST00000644824.1:c.402-313_402-312insT	ENSP00000495614.1:n.402-313_402-312insT
ENST00000222792.10:c.177-313_177-312insT	ENSP00000222792.6:n.177-313_177-312insT
ENST00000409350.5:c.216-313_216-312insT	ENSP00000386968.1:n.216-313_216-312insT
ENST00000409922.5:n.388-313_388-312insT
ENST00000409964.6:n.376-313_376-312insT
ENST00000412536.5:n.197-313_197-312insT
ENST00000435288.6:c.168+4358_168+4359insT	ENSP00000400282.3:n.168+4358_168+4359insT
ENST00000439384.5:c.402-313_402-312insT	ENSP00000409843.1:n.402-313_402-312insT
ENST00000474070.5:c.277-313_277-312insT
ENST00000478128.6:n.271-313_271-312insT
ENST00000482820.6:n.386-313_386-312insT
ENST00000491856.1:n.1413_1414insT
ENST00000495789.6:c.177-313_177-312insT	ENSP00000438587.2:n.177-313_177-312insT
ENST00000539389.5:c.177-313_177-312insT	ENSP00000440526.2:n.177-313_177-312insT
ENST00000539406.5:c.177-313_177-312insT	ENSP00000444063.2:n.177-313_177-312insT
NM_001293069.1:c.402-313_402-312insT	NP_001279998.1:n.402-313_402-312insT
NM_001293070.1:c.216-313_216-312insT	NP_001279999.1:n.216-313_216-312insT
NM_001293071.1:c.72-313_72-312insT	NP_001280000.1:n.72-313_72-312insT
NM_001293072.1:c.132-313_132-312insT	NP_001280001.1:n.132-313_132-312insT
NM_004067.3:c.177-313_177-312insT	NP_004058.1:n.177-313_177-312insT
XM_011515105.1:c.480-313_480-312insT	XP_011513407.1:n.480-313_480-312insT
XM_011515106.1:c.441-313_441-312insT	XP_011513408.1:n.441-313_441-312insT
XM_011515107.1:c.255-313_255-312insT	XP_011513409.1:n.255-313_255-312insT
XM_011515108.1:c.177-313_177-312insT	XP_011513410.1:n.177-313_177-312insT
XM_011515109.1:c.138-313_138-312insT	XP_011513411.1:n.138-313_138-312insT
XM_011515110.1:c.99-313_99-312insT	XP_011513412.1:n.99-313_99-312insT
XM_011515111.1:c.72-313_72-312insT	XP_011513413.1:n.72-313_72-312insT
XM_011515112.1:c.480-313_480-312insT	XP_011513414.1:n.480-313_480-312insT
XM_011515105.2:c.480-313_480-312insT	XP_011513407.1:n.480-313_480-312insT
XM_011515106.2:c.441-313_441-312insT	XP_011513408.1:n.441-313_441-312insT
XM_011515107.2:c.255-313_255-312insT	XP_011513409.1:n.255-313_255-312insT
XM_017011721.1:c.498-313_498-312insT	XP_016867210.1:n.498-313_498-312insT
XM_017011722.1:c.273-313_273-312insT	XP_016867211.1:n.273-313_273-312insT
NM_004067.4:c.177-313_177-312insT MANE Select	NP_004058.1:n.177-313_177-312insT
NM_001293070.2:c.216-313_216-312insT	NP_001279999.1:n.216-313_216-312insT
NM_001293071.2:c.72-313_72-312insT	NP_001280000.1:n.72-313_72-312insT
NM_001293072.2:c.132-313_132-312insT	NP_001280001.1:n.132-313_132-312insT
NM_001398427.1:c.-262-313_-262-312insT	NP_001385356.1:n.-262-313_-262-312insT