Canonical Allele Identifier: CA454421594

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438040G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398424G>C , CM000669.2:g.29398424G>C	GRCh38
NC_000007.13:g.29438040G>C , CM000669.1:g.29438040G>C	GRCh37
NC_000007.12:g.29404565G>C	NCBI36
NG_029365.2:g.256878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.267G>C	ENSP00000386968.2:p.Val89=
ENST00000439384.6:n.490G>C
ENST00000446446.6:c.228G>C	ENSP00000396867.2:p.Val76=
ENST00000706158.1:c.*172G>C	ENSP00000516236.1:n.*172G>C
ENST00000706159.1:c.140G>C	ENSP00000516237.1:p.Trp47Ser
ENST00000706160.1:c.228G>C	ENSP00000516238.1:p.Val76=
ENST00000706161.1:c.306G>C	ENSP00000516239.1:p.Val102=
ENST00000706162.1:c.228G>C	ENSP00000516240.1:p.Val76=
ENST00000706163.1:c.50-81855G>C	ENSP00000516241.1:n.50-81855G>C
ENST00000222792.11:c.228G>C MANE Select	ENSP00000222792.7:p.Val76=
ENST00000644824.1:c.453G>C	ENSP00000495614.1:p.Val151=
ENST00000222792.10:c.228G>C	ENSP00000222792.6:p.Val76=
ENST00000409350.5:c.267G>C	ENSP00000386968.1:p.Val89=
ENST00000409922.5:n.439G>C
ENST00000409964.6:n.427G>C
ENST00000412536.5:n.248G>C
ENST00000435288.6:c.168+4722G>C	ENSP00000400282.3:n.168+4722G>C
ENST00000439384.5:c.453G>C	ENSP00000409843.1:p.Val151=
ENST00000474070.5:c.328G>C
ENST00000478128.6:n.322G>C
ENST00000482820.6:n.437G>C
ENST00000491856.1:n.1777G>C
ENST00000495789.6:c.228G>C	ENSP00000438587.2:p.Val76=
ENST00000539389.5:c.228G>C	ENSP00000440526.2:p.Val76=
ENST00000539406.5:c.228G>C	ENSP00000444063.2:p.Val76=
NM_001293069.1:c.453G>C	NP_001279998.1:p.Val151=
NM_001293070.1:c.267G>C	NP_001279999.1:p.Val89=
NM_001293071.1:c.123G>C	NP_001280000.1:p.Val41=
NM_001293072.1:c.183G>C	NP_001280001.1:p.Val61=
NM_004067.3:c.228G>C	NP_004058.1:p.Val76=
XM_011515105.1:c.531G>C	XP_011513407.1:p.Val177=
XM_011515106.1:c.492G>C	XP_011513408.1:p.Val164=
XM_011515107.1:c.306G>C	XP_011513409.1:p.Val102=
XM_011515108.1:c.228G>C	XP_011513410.1:p.Val76=
XM_011515109.1:c.189G>C	XP_011513411.1:p.Val63=
XM_011515110.1:c.150G>C	XP_011513412.1:p.Val50=
XM_011515111.1:c.123G>C	XP_011513413.1:p.Val41=
XM_011515112.1:c.531G>C	XP_011513414.1:p.Val177=
XM_011515105.2:c.531G>C	XP_011513407.1:p.Val177=
XM_011515106.2:c.492G>C	XP_011513408.1:p.Val164=
XM_011515107.2:c.306G>C	XP_011513409.1:p.Val102=
XM_017011721.1:c.549G>C	XP_016867210.1:p.Val183=
XM_017011722.1:c.324G>C	XP_016867211.1:p.Val108=
NM_004067.4:c.228G>C MANE Select	NP_004058.1:p.Val76=
NM_001293070.2:c.267G>C	NP_001279999.1:p.Val89=
NM_001293071.2:c.123G>C	NP_001280000.1:p.Val41=
NM_001293072.2:c.183G>C	NP_001280001.1:p.Val61=
NM_001398427.1:c.-211G>C	NP_001385356.1:n.-211G>C