Canonical Allele Identifier: CA1697231136

Gene: CHN2

Linked Data

• dbSNP Id: rs1801901459
• gnomAD v4: 7-29398065-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398065_29398066insT , CM000669.2:g.29398065_29398066insT	GRCh38
NC_000007.13:g.29437681_29437682insT , CM000669.1:g.29437681_29437682insT	GRCh37
NC_000007.12:g.29404206_29404207insT	NCBI36
NG_029365.2:g.256519_256520insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-308_216-307insT	ENSP00000386968.2:n.216-308_216-307insT
ENST00000439384.6:n.439-308_439-307insT
ENST00000446446.6:c.177-308_177-307insT	ENSP00000396867.2:n.177-308_177-307insT
ENST00000706158.1:c.*121-308_*121-307insT	ENSP00000516236.1:n.*121-308_*121-307insT
ENST00000706159.1:c.89-308_89-307insT	ENSP00000516237.1:n.89-308_89-307insT
ENST00000706160.1:c.177-308_177-307insT	ENSP00000516238.1:n.177-308_177-307insT
ENST00000706161.1:c.255-308_255-307insT	ENSP00000516239.1:n.255-308_255-307insT
ENST00000706162.1:c.177-308_177-307insT	ENSP00000516240.1:n.177-308_177-307insT
ENST00000706163.1:c.50-82214_50-82213insT	ENSP00000516241.1:n.50-82214_50-82213insT
ENST00000222792.11:c.177-308_177-307insT MANE Select	ENSP00000222792.7:n.177-308_177-307insT
ENST00000644824.1:c.402-308_402-307insT	ENSP00000495614.1:n.402-308_402-307insT
ENST00000222792.10:c.177-308_177-307insT	ENSP00000222792.6:n.177-308_177-307insT
ENST00000409350.5:c.216-308_216-307insT	ENSP00000386968.1:n.216-308_216-307insT
ENST00000409922.5:n.388-308_388-307insT
ENST00000409964.6:n.376-308_376-307insT
ENST00000412536.5:n.197-308_197-307insT
ENST00000435288.6:c.168+4363_168+4364insT	ENSP00000400282.3:n.168+4363_168+4364insT
ENST00000439384.5:c.402-308_402-307insT	ENSP00000409843.1:n.402-308_402-307insT
ENST00000474070.5:c.277-308_277-307insT
ENST00000478128.6:n.271-308_271-307insT
ENST00000482820.6:n.386-308_386-307insT
ENST00000491856.1:n.1418_1419insT
ENST00000495789.6:c.177-308_177-307insT	ENSP00000438587.2:n.177-308_177-307insT
ENST00000539389.5:c.177-308_177-307insT	ENSP00000440526.2:n.177-308_177-307insT
ENST00000539406.5:c.177-308_177-307insT	ENSP00000444063.2:n.177-308_177-307insT
NM_001293069.1:c.402-308_402-307insT	NP_001279998.1:n.402-308_402-307insT
NM_001293070.1:c.216-308_216-307insT	NP_001279999.1:n.216-308_216-307insT
NM_001293071.1:c.72-308_72-307insT	NP_001280000.1:n.72-308_72-307insT
NM_001293072.1:c.132-308_132-307insT	NP_001280001.1:n.132-308_132-307insT
NM_004067.3:c.177-308_177-307insT	NP_004058.1:n.177-308_177-307insT
XM_011515105.1:c.480-308_480-307insT	XP_011513407.1:n.480-308_480-307insT
XM_011515106.1:c.441-308_441-307insT	XP_011513408.1:n.441-308_441-307insT
XM_011515107.1:c.255-308_255-307insT	XP_011513409.1:n.255-308_255-307insT
XM_011515108.1:c.177-308_177-307insT	XP_011513410.1:n.177-308_177-307insT
XM_011515109.1:c.138-308_138-307insT	XP_011513411.1:n.138-308_138-307insT
XM_011515110.1:c.99-308_99-307insT	XP_011513412.1:n.99-308_99-307insT
XM_011515111.1:c.72-308_72-307insT	XP_011513413.1:n.72-308_72-307insT
XM_011515112.1:c.480-308_480-307insT	XP_011513414.1:n.480-308_480-307insT
XM_011515105.2:c.480-308_480-307insT	XP_011513407.1:n.480-308_480-307insT
XM_011515106.2:c.441-308_441-307insT	XP_011513408.1:n.441-308_441-307insT
XM_011515107.2:c.255-308_255-307insT	XP_011513409.1:n.255-308_255-307insT
XM_017011721.1:c.498-308_498-307insT	XP_016867210.1:n.498-308_498-307insT
XM_017011722.1:c.273-308_273-307insT	XP_016867211.1:n.273-308_273-307insT
NM_004067.4:c.177-308_177-307insT MANE Select	NP_004058.1:n.177-308_177-307insT
NM_001293070.2:c.216-308_216-307insT	NP_001279999.1:n.216-308_216-307insT
NM_001293071.2:c.72-308_72-307insT	NP_001280000.1:n.72-308_72-307insT
NM_001293072.2:c.132-308_132-307insT	NP_001280001.1:n.132-308_132-307insT
NM_001398427.1:c.-262-308_-262-307insT	NP_001385356.1:n.-262-308_-262-307insT