Canonical Allele Identifier: CA367241804

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438098C>A (hg19) ; chr7:g.29398482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398482C>A , CM000669.2:g.29398482C>A	GRCh38
NC_000007.13:g.29438098C>A , CM000669.1:g.29438098C>A	GRCh37
NC_000007.12:g.29404623C>A	NCBI36
NG_029365.2:g.256936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.325C>A	ENSP00000386968.2:p.Leu109Ile
ENST00000439384.6:n.548C>A
ENST00000446446.6:c.286C>A	ENSP00000396867.2:p.Leu96Ile
ENST00000706158.1:c.*230C>A	ENSP00000516236.1:n.*230C>A
ENST00000706159.1:c.198C>A	ENSP00000516237.1:p.Leu66=
ENST00000706160.1:c.286C>A	ENSP00000516238.1:p.Leu96Ile
ENST00000706161.1:c.364C>A	ENSP00000516239.1:p.Leu122Ile
ENST00000706162.1:c.286C>A	ENSP00000516240.1:p.Leu96Ile
ENST00000706163.1:c.50-81797C>A	ENSP00000516241.1:n.50-81797C>A
ENST00000222792.11:c.286C>A MANE Select	ENSP00000222792.7:p.Leu96Ile
ENST00000644824.1:c.511C>A	ENSP00000495614.1:p.Leu171Ile
ENST00000222792.10:c.286C>A	ENSP00000222792.6:p.Leu96Ile
ENST00000409350.5:c.325C>A	ENSP00000386968.1:p.Leu109Ile
ENST00000409922.5:n.497C>A
ENST00000409964.6:n.485C>A
ENST00000412536.5:n.306C>A
ENST00000435288.6:c.168+4780C>A	ENSP00000400282.3:n.168+4780C>A
ENST00000439384.5:c.511C>A	ENSP00000409843.1:p.Leu171Ile
ENST00000474070.5:c.386C>A
ENST00000478128.6:n.380C>A
ENST00000482820.6:n.495C>A
ENST00000491856.1:n.1835C>A
ENST00000495789.6:c.286C>A	ENSP00000438587.2:p.Leu96Ile
ENST00000539389.5:c.286C>A	ENSP00000440526.2:p.Leu96Ile
ENST00000539406.5:c.286C>A	ENSP00000444063.2:p.Leu96Ile
NM_001293069.1:c.511C>A	NP_001279998.1:p.Leu171Ile
NM_001293070.1:c.325C>A	NP_001279999.1:p.Leu109Ile
NM_001293071.1:c.181C>A	NP_001280000.1:p.Leu61Ile
NM_001293072.1:c.241C>A	NP_001280001.1:p.Leu81Ile
NM_004067.3:c.286C>A	NP_004058.1:p.Leu96Ile
XM_011515105.1:c.589C>A	XP_011513407.1:p.Leu197Ile
XM_011515106.1:c.550C>A	XP_011513408.1:p.Leu184Ile
XM_011515107.1:c.364C>A	XP_011513409.1:p.Leu122Ile
XM_011515108.1:c.286C>A	XP_011513410.1:p.Leu96Ile
XM_011515109.1:c.247C>A	XP_011513411.1:p.Leu83Ile
XM_011515110.1:c.208C>A	XP_011513412.1:p.Leu70Ile
XM_011515111.1:c.181C>A	XP_011513413.1:p.Leu61Ile
XM_011515112.1:c.589C>A	XP_011513414.1:p.Leu197Ile
XM_011515105.2:c.589C>A	XP_011513407.1:p.Leu197Ile
XM_011515106.2:c.550C>A	XP_011513408.1:p.Leu184Ile
XM_011515107.2:c.364C>A	XP_011513409.1:p.Leu122Ile
XM_017011721.1:c.607C>A	XP_016867210.1:p.Leu203Ile
XM_017011722.1:c.382C>A	XP_016867211.1:p.Leu128Ile
NM_004067.4:c.286C>A MANE Select	NP_004058.1:p.Leu96Ile
NM_001293070.2:c.325C>A	NP_001279999.1:p.Leu109Ile
NM_001293071.2:c.181C>A	NP_001280000.1:p.Leu61Ile
NM_001293072.2:c.241C>A	NP_001280001.1:p.Leu81Ile
NM_001398427.1:c.-153C>A	NP_001385356.1:n.-153C>A