Canonical Allele Identifier: CA367241807

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438099T>C (hg19) ; chr7:g.29398483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398483T>C , CM000669.2:g.29398483T>C	GRCh38
NC_000007.13:g.29438099T>C , CM000669.1:g.29438099T>C	GRCh37
NC_000007.12:g.29404624T>C	NCBI36
NG_029365.2:g.256937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.326T>C	ENSP00000386968.2:p.Leu109Pro
ENST00000439384.6:n.549T>C
ENST00000446446.6:c.287T>C	ENSP00000396867.2:p.Leu96Pro
ENST00000706158.1:c.*231T>C	ENSP00000516236.1:n.*231T>C
ENST00000706159.1:c.199T>C	ENSP00000516237.1:p.Ser67Pro
ENST00000706160.1:c.287T>C	ENSP00000516238.1:p.Leu96Pro
ENST00000706161.1:c.365T>C	ENSP00000516239.1:p.Leu122Pro
ENST00000706162.1:c.287T>C	ENSP00000516240.1:p.Leu96Pro
ENST00000706163.1:c.50-81796T>C	ENSP00000516241.1:n.50-81796T>C
ENST00000222792.11:c.287T>C MANE Select	ENSP00000222792.7:p.Leu96Pro
ENST00000644824.1:c.512T>C	ENSP00000495614.1:p.Leu171Pro
ENST00000222792.10:c.287T>C	ENSP00000222792.6:p.Leu96Pro
ENST00000409350.5:c.326T>C	ENSP00000386968.1:p.Leu109Pro
ENST00000409922.5:n.498T>C
ENST00000409964.6:n.486T>C
ENST00000412536.5:n.307T>C
ENST00000435288.6:c.168+4781T>C	ENSP00000400282.3:n.168+4781T>C
ENST00000439384.5:c.512T>C	ENSP00000409843.1:p.Leu171Pro
ENST00000474070.5:c.387T>C
ENST00000478128.6:n.381T>C
ENST00000482820.6:n.496T>C
ENST00000491856.1:n.1836T>C
ENST00000495789.6:c.287T>C	ENSP00000438587.2:p.Leu96Pro
ENST00000539389.5:c.287T>C	ENSP00000440526.2:p.Leu96Pro
ENST00000539406.5:c.287T>C	ENSP00000444063.2:p.Leu96Pro
NM_001293069.1:c.512T>C	NP_001279998.1:p.Leu171Pro
NM_001293070.1:c.326T>C	NP_001279999.1:p.Leu109Pro
NM_001293071.1:c.182T>C	NP_001280000.1:p.Leu61Pro
NM_001293072.1:c.242T>C	NP_001280001.1:p.Leu81Pro
NM_004067.3:c.287T>C	NP_004058.1:p.Leu96Pro
XM_011515105.1:c.590T>C	XP_011513407.1:p.Leu197Pro
XM_011515106.1:c.551T>C	XP_011513408.1:p.Leu184Pro
XM_011515107.1:c.365T>C	XP_011513409.1:p.Leu122Pro
XM_011515108.1:c.287T>C	XP_011513410.1:p.Leu96Pro
XM_011515109.1:c.248T>C	XP_011513411.1:p.Leu83Pro
XM_011515110.1:c.209T>C	XP_011513412.1:p.Leu70Pro
XM_011515111.1:c.182T>C	XP_011513413.1:p.Leu61Pro
XM_011515112.1:c.590T>C	XP_011513414.1:p.Leu197Pro
XM_011515105.2:c.590T>C	XP_011513407.1:p.Leu197Pro
XM_011515106.2:c.551T>C	XP_011513408.1:p.Leu184Pro
XM_011515107.2:c.365T>C	XP_011513409.1:p.Leu122Pro
XM_017011721.1:c.608T>C	XP_016867210.1:p.Leu203Pro
XM_017011722.1:c.383T>C	XP_016867211.1:p.Leu128Pro
NM_004067.4:c.287T>C MANE Select	NP_004058.1:p.Leu96Pro
NM_001293070.2:c.326T>C	NP_001279999.1:p.Leu109Pro
NM_001293071.2:c.182T>C	NP_001280000.1:p.Leu61Pro
NM_001293072.2:c.242T>C	NP_001280001.1:p.Leu81Pro
NM_001398427.1:c.-152T>C	NP_001385356.1:n.-152T>C