Canonical Allele Identifier: CA2682193345

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398519-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398519T>C , CM000669.2:g.29398519T>C	GRCh38
NC_000007.13:g.29438135T>C , CM000669.1:g.29438135T>C	GRCh37
NC_000007.12:g.29404660T>C	NCBI36
NG_029365.2:g.256973T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409350.6:c.329+33T>C	ENSP00000386968.2:n.329+33T>C
ENST00000439384.6:n.552+33T>C
ENST00000446446.6:c.290+33T>C	ENSP00000396867.2:n.290+33T>C
ENST00000706158.1:c.*234+33T>C	ENSP00000516236.1:n.*234+33T>C
ENST00000706159.1:c.202+33T>C	ENSP00000516237.1:n.202+33T>C
ENST00000706160.1:c.290+33T>C	ENSP00000516238.1:n.290+33T>C
ENST00000706161.1:c.368+33T>C	ENSP00000516239.1:n.368+33T>C
ENST00000706162.1:c.290+33T>C	ENSP00000516240.1:n.290+33T>C
ENST00000706163.1:c.50-81760T>C	ENSP00000516241.1:n.50-81760T>C
ENST00000222792.11:c.290+33T>C MANE Select	ENSP00000222792.7:n.290+33T>C
ENST00000644824.1:c.515+33T>C	ENSP00000495614.1:n.515+33T>C
ENST00000222792.10:c.290+33T>C	ENSP00000222792.6:n.290+33T>C
ENST00000409350.5:c.329+33T>C	ENSP00000386968.1:n.329+33T>C
ENST00000409922.5:n.501+33T>C
ENST00000409964.6:n.489+33T>C
ENST00000412536.5:n.310+33T>C
ENST00000435288.6:c.168+4817T>C	ENSP00000400282.3:n.168+4817T>C
ENST00000439384.5:c.515+33T>C	ENSP00000409843.1:n.515+33T>C
ENST00000474070.5:c.390+33T>C
ENST00000478128.6:n.384+33T>C
ENST00000491856.1:n.1839+33T>C
ENST00000495789.6:c.290+33T>C	ENSP00000438587.2:n.290+33T>C
ENST00000539389.5:c.290+33T>C	ENSP00000440526.2:n.290+33T>C
ENST00000539406.5:c.290+33T>C	ENSP00000444063.2:n.290+33T>C
NM_001293069.1:c.515+33T>C	NP_001279998.1:n.515+33T>C
NM_001293070.1:c.329+33T>C	NP_001279999.1:n.329+33T>C
NM_001293071.1:c.185+33T>C	NP_001280000.1:n.185+33T>C
NM_001293072.1:c.245+33T>C	NP_001280001.1:n.245+33T>C
NM_004067.3:c.290+33T>C	NP_004058.1:n.290+33T>C
XM_011515105.1:c.593+33T>C	XP_011513407.1:n.593+33T>C
XM_011515106.1:c.554+33T>C	XP_011513408.1:n.554+33T>C
XM_011515107.1:c.368+33T>C	XP_011513409.1:n.368+33T>C
XM_011515108.1:c.290+33T>C	XP_011513410.1:n.290+33T>C
XM_011515109.1:c.251+33T>C	XP_011513411.1:n.251+33T>C
XM_011515110.1:c.212+33T>C	XP_011513412.1:n.212+33T>C
XM_011515111.1:c.185+33T>C	XP_011513413.1:n.185+33T>C
XM_011515112.1:c.593+33T>C	XP_011513414.1:n.593+33T>C
XM_011515105.2:c.593+33T>C	XP_011513407.1:n.593+33T>C
XM_011515106.2:c.554+33T>C	XP_011513408.1:n.554+33T>C
XM_011515107.2:c.368+33T>C	XP_011513409.1:n.368+33T>C
XM_017011721.1:c.611+33T>C	XP_016867210.1:n.611+33T>C
XM_017011722.1:c.386+33T>C	XP_016867211.1:n.386+33T>C
NM_004067.4:c.290+33T>C MANE Select	NP_004058.1:n.290+33T>C
NM_001293070.2:c.329+33T>C	NP_001279999.1:n.329+33T>C
NM_001293071.2:c.185+33T>C	NP_001280000.1:n.185+33T>C
NM_001293072.2:c.245+33T>C	NP_001280001.1:n.245+33T>C
NM_001398427.1:c.-149+33T>C	NP_001385356.1:n.-149+33T>C