Canonical Allele Identifier: CA367241745

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438069A>T (hg19) ; chr7:g.29398453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398453A>T , CM000669.2:g.29398453A>T	GRCh38
NC_000007.13:g.29438069A>T , CM000669.1:g.29438069A>T	GRCh37
NC_000007.12:g.29404594A>T	NCBI36
NG_029365.2:g.256907A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.296A>T	ENSP00000386968.2:p.Gln99Leu
ENST00000439384.6:n.519A>T
ENST00000446446.6:c.257A>T	ENSP00000396867.2:p.Gln86Leu
ENST00000706158.1:c.*201A>T	ENSP00000516236.1:n.*201A>T
ENST00000706159.1:c.169A>T	ENSP00000516237.1:p.Ser57Cys
ENST00000706160.1:c.257A>T	ENSP00000516238.1:p.Gln86Leu
ENST00000706161.1:c.335A>T	ENSP00000516239.1:p.Gln112Leu
ENST00000706162.1:c.257A>T	ENSP00000516240.1:p.Gln86Leu
ENST00000706163.1:c.50-81826A>T	ENSP00000516241.1:n.50-81826A>T
ENST00000222792.11:c.257A>T MANE Select	ENSP00000222792.7:p.Gln86Leu
ENST00000644824.1:c.482A>T	ENSP00000495614.1:p.Gln161Leu
ENST00000222792.10:c.257A>T	ENSP00000222792.6:p.Gln86Leu
ENST00000409350.5:c.296A>T	ENSP00000386968.1:p.Gln99Leu
ENST00000409922.5:n.468A>T
ENST00000409964.6:n.456A>T
ENST00000412536.5:n.277A>T
ENST00000435288.6:c.168+4751A>T	ENSP00000400282.3:n.168+4751A>T
ENST00000439384.5:c.482A>T	ENSP00000409843.1:p.Gln161Leu
ENST00000474070.5:c.357A>T
ENST00000478128.6:n.351A>T
ENST00000482820.6:n.466A>T
ENST00000491856.1:n.1806A>T
ENST00000495789.6:c.257A>T	ENSP00000438587.2:p.Gln86Leu
ENST00000539389.5:c.257A>T	ENSP00000440526.2:p.Gln86Leu
ENST00000539406.5:c.257A>T	ENSP00000444063.2:p.Gln86Leu
NM_001293069.1:c.482A>T	NP_001279998.1:p.Gln161Leu
NM_001293070.1:c.296A>T	NP_001279999.1:p.Gln99Leu
NM_001293071.1:c.152A>T	NP_001280000.1:p.Gln51Leu
NM_001293072.1:c.212A>T	NP_001280001.1:p.Gln71Leu
NM_004067.3:c.257A>T	NP_004058.1:p.Gln86Leu
XM_011515105.1:c.560A>T	XP_011513407.1:p.Gln187Leu
XM_011515106.1:c.521A>T	XP_011513408.1:p.Gln174Leu
XM_011515107.1:c.335A>T	XP_011513409.1:p.Gln112Leu
XM_011515108.1:c.257A>T	XP_011513410.1:p.Gln86Leu
XM_011515109.1:c.218A>T	XP_011513411.1:p.Gln73Leu
XM_011515110.1:c.179A>T	XP_011513412.1:p.Gln60Leu
XM_011515111.1:c.152A>T	XP_011513413.1:p.Gln51Leu
XM_011515112.1:c.560A>T	XP_011513414.1:p.Gln187Leu
XM_011515105.2:c.560A>T	XP_011513407.1:p.Gln187Leu
XM_011515106.2:c.521A>T	XP_011513408.1:p.Gln174Leu
XM_011515107.2:c.335A>T	XP_011513409.1:p.Gln112Leu
XM_017011721.1:c.578A>T	XP_016867210.1:p.Gln193Leu
XM_017011722.1:c.353A>T	XP_016867211.1:p.Gln118Leu
NM_004067.4:c.257A>T MANE Select	NP_004058.1:p.Gln86Leu
NM_001293070.2:c.296A>T	NP_001279999.1:p.Gln99Leu
NM_001293071.2:c.152A>T	NP_001280000.1:p.Gln51Leu
NM_001293072.2:c.212A>T	NP_001280001.1:p.Gln71Leu
NM_001398427.1:c.-182A>T	NP_001385356.1:n.-182A>T