Canonical Allele Identifier: CA2682193339

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398508-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398508G>T , CM000669.2:g.29398508G>T	GRCh38
NC_000007.13:g.29438124G>T , CM000669.1:g.29438124G>T	GRCh37
NC_000007.12:g.29404649G>T	NCBI36
NG_029365.2:g.256962G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.329+22G>T	ENSP00000386968.2:n.329+22G>T
ENST00000439384.6:n.552+22G>T
ENST00000446446.6:c.290+22G>T	ENSP00000396867.2:n.290+22G>T
ENST00000706158.1:c.*234+22G>T	ENSP00000516236.1:n.*234+22G>T
ENST00000706159.1:c.202+22G>T	ENSP00000516237.1:n.202+22G>T
ENST00000706160.1:c.290+22G>T	ENSP00000516238.1:n.290+22G>T
ENST00000706161.1:c.368+22G>T	ENSP00000516239.1:n.368+22G>T
ENST00000706162.1:c.290+22G>T	ENSP00000516240.1:n.290+22G>T
ENST00000706163.1:c.50-81771G>T	ENSP00000516241.1:n.50-81771G>T
ENST00000222792.11:c.290+22G>T MANE Select	ENSP00000222792.7:n.290+22G>T
ENST00000644824.1:c.515+22G>T	ENSP00000495614.1:n.515+22G>T
ENST00000222792.10:c.290+22G>T	ENSP00000222792.6:n.290+22G>T
ENST00000409350.5:c.329+22G>T	ENSP00000386968.1:n.329+22G>T
ENST00000409922.5:n.501+22G>T
ENST00000409964.6:n.489+22G>T
ENST00000412536.5:n.310+22G>T
ENST00000435288.6:c.168+4806G>T	ENSP00000400282.3:n.168+4806G>T
ENST00000439384.5:c.515+22G>T	ENSP00000409843.1:n.515+22G>T
ENST00000474070.5:c.390+22G>T
ENST00000478128.6:n.384+22G>T
ENST00000491856.1:n.1839+22G>T
ENST00000495789.6:c.290+22G>T	ENSP00000438587.2:n.290+22G>T
ENST00000539389.5:c.290+22G>T	ENSP00000440526.2:n.290+22G>T
ENST00000539406.5:c.290+22G>T	ENSP00000444063.2:n.290+22G>T
NM_001293069.1:c.515+22G>T	NP_001279998.1:n.515+22G>T
NM_001293070.1:c.329+22G>T	NP_001279999.1:n.329+22G>T
NM_001293071.1:c.185+22G>T	NP_001280000.1:n.185+22G>T
NM_001293072.1:c.245+22G>T	NP_001280001.1:n.245+22G>T
NM_004067.3:c.290+22G>T	NP_004058.1:n.290+22G>T
XM_011515105.1:c.593+22G>T	XP_011513407.1:n.593+22G>T
XM_011515106.1:c.554+22G>T	XP_011513408.1:n.554+22G>T
XM_011515107.1:c.368+22G>T	XP_011513409.1:n.368+22G>T
XM_011515108.1:c.290+22G>T	XP_011513410.1:n.290+22G>T
XM_011515109.1:c.251+22G>T	XP_011513411.1:n.251+22G>T
XM_011515110.1:c.212+22G>T	XP_011513412.1:n.212+22G>T
XM_011515111.1:c.185+22G>T	XP_011513413.1:n.185+22G>T
XM_011515112.1:c.593+22G>T	XP_011513414.1:n.593+22G>T
XM_011515105.2:c.593+22G>T	XP_011513407.1:n.593+22G>T
XM_011515106.2:c.554+22G>T	XP_011513408.1:n.554+22G>T
XM_011515107.2:c.368+22G>T	XP_011513409.1:n.368+22G>T
XM_017011721.1:c.611+22G>T	XP_016867210.1:n.611+22G>T
XM_017011722.1:c.386+22G>T	XP_016867211.1:n.386+22G>T
NM_004067.4:c.290+22G>T MANE Select	NP_004058.1:n.290+22G>T
NM_001293070.2:c.329+22G>T	NP_001279999.1:n.329+22G>T
NM_001293071.2:c.185+22G>T	NP_001280000.1:n.185+22G>T
NM_001293072.2:c.245+22G>T	NP_001280001.1:n.245+22G>T
NM_001398427.1:c.-149+22G>T	NP_001385356.1:n.-149+22G>T