Canonical Allele Identifier: CA1099765718

Gene: CHN2

Linked Data

• dbSNP Id: rs1801907857
• gnomAD v3: 7-29398105-T-TTTCA
• gnomAD v4: 7-29398105-T-TTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398108_29398111dup , CM000669.2:g.29398108_29398111dup	GRCh38
NC_000007.13:g.29437724_29437727dup , CM000669.1:g.29437724_29437727dup	GRCh37
NC_000007.12:g.29404249_29404252dup	NCBI36
NG_029365.2:g.256562_256565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-265_216-262dup	ENSP00000386968.2:n.216-265_216-262dup
ENST00000439384.6:n.439-265_439-262dup
ENST00000446446.6:c.177-265_177-262dup	ENSP00000396867.2:n.177-265_177-262dup
ENST00000706158.1:c.*121-265_*121-262dup	ENSP00000516236.1:n.*121-265_*121-262dup
ENST00000706159.1:c.89-265_89-262dup	ENSP00000516237.1:n.89-265_89-262dup
ENST00000706160.1:c.177-265_177-262dup	ENSP00000516238.1:n.177-265_177-262dup
ENST00000706161.1:c.255-265_255-262dup	ENSP00000516239.1:n.255-265_255-262dup
ENST00000706162.1:c.177-265_177-262dup	ENSP00000516240.1:n.177-265_177-262dup
ENST00000706163.1:c.50-82171_50-82168dup	ENSP00000516241.1:n.50-82171_50-82168dup
ENST00000222792.11:c.177-265_177-262dup MANE Select	ENSP00000222792.7:n.177-265_177-262dup
ENST00000644824.1:c.402-265_402-262dup	ENSP00000495614.1:n.402-265_402-262dup
ENST00000222792.10:c.177-265_177-262dup	ENSP00000222792.6:n.177-265_177-262dup
ENST00000409350.5:c.216-265_216-262dup	ENSP00000386968.1:n.216-265_216-262dup
ENST00000409922.5:n.388-265_388-262dup
ENST00000409964.6:n.376-265_376-262dup
ENST00000412536.5:n.197-265_197-262dup
ENST00000435288.6:c.168+4406_168+4409dup	ENSP00000400282.3:n.168+4406_168+4409dup
ENST00000439384.5:c.402-265_402-262dup	ENSP00000409843.1:n.402-265_402-262dup
ENST00000474070.5:c.277-265_277-262dup
ENST00000478128.6:n.271-265_271-262dup
ENST00000482820.6:n.386-265_386-262dup
ENST00000491856.1:n.1461_1464dup
ENST00000495789.6:c.177-265_177-262dup	ENSP00000438587.2:n.177-265_177-262dup
ENST00000539389.5:c.177-265_177-262dup	ENSP00000440526.2:n.177-265_177-262dup
ENST00000539406.5:c.177-265_177-262dup	ENSP00000444063.2:n.177-265_177-262dup
NM_001293069.1:c.402-265_402-262dup	NP_001279998.1:n.402-265_402-262dup
NM_001293070.1:c.216-265_216-262dup	NP_001279999.1:n.216-265_216-262dup
NM_001293071.1:c.72-265_72-262dup	NP_001280000.1:n.72-265_72-262dup
NM_001293072.1:c.132-265_132-262dup	NP_001280001.1:n.132-265_132-262dup
NM_004067.3:c.177-265_177-262dup	NP_004058.1:n.177-265_177-262dup
XM_011515105.1:c.480-265_480-262dup	XP_011513407.1:n.480-265_480-262dup
XM_011515106.1:c.441-265_441-262dup	XP_011513408.1:n.441-265_441-262dup
XM_011515107.1:c.255-265_255-262dup	XP_011513409.1:n.255-265_255-262dup
XM_011515108.1:c.177-265_177-262dup	XP_011513410.1:n.177-265_177-262dup
XM_011515109.1:c.138-265_138-262dup	XP_011513411.1:n.138-265_138-262dup
XM_011515110.1:c.99-265_99-262dup	XP_011513412.1:n.99-265_99-262dup
XM_011515111.1:c.72-265_72-262dup	XP_011513413.1:n.72-265_72-262dup
XM_011515112.1:c.480-265_480-262dup	XP_011513414.1:n.480-265_480-262dup
XM_011515105.2:c.480-265_480-262dup	XP_011513407.1:n.480-265_480-262dup
XM_011515106.2:c.441-265_441-262dup	XP_011513408.1:n.441-265_441-262dup
XM_011515107.2:c.255-265_255-262dup	XP_011513409.1:n.255-265_255-262dup
XM_017011721.1:c.498-265_498-262dup	XP_016867210.1:n.498-265_498-262dup
XM_017011722.1:c.273-265_273-262dup	XP_016867211.1:n.273-265_273-262dup
NM_004067.4:c.177-265_177-262dup MANE Select	NP_004058.1:n.177-265_177-262dup
NM_001293070.2:c.216-265_216-262dup	NP_001279999.1:n.216-265_216-262dup
NM_001293071.2:c.72-265_72-262dup	NP_001280000.1:n.72-265_72-262dup
NM_001293072.2:c.132-265_132-262dup	NP_001280001.1:n.132-265_132-262dup
NM_001398427.1:c.-262-265_-262-262dup	NP_001385356.1:n.-262-265_-262-262dup