Canonical Allele Identifier: CA454421597
Gene: CHN2 HGNC NCBI

Linked Data

dbSNP Id: rs1585261363
MyVariant Identifiers: chr7:g.29438046T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29398430T>G , CM000669.2:g.29398430T>G GRCh38
NC_000007.13:g.29438046T>G , CM000669.1:g.29438046T>G GRCh37
NC_000007.12:g.29404571T>G NCBI36
NG_029365.2:g.256884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409350.6:c.273T>G ENSP00000386968.2:p.Gly91=
ENST00000439384.6:n.496T>G
ENST00000446446.6:c.234T>G ENSP00000396867.2:p.Gly78=
ENST00000706158.1:c.*178T>G ENSP00000516236.1:n.*178T>G
ENST00000706159.1:c.146T>G ENSP00000516237.1:p.Val49Gly
ENST00000706160.1:c.234T>G ENSP00000516238.1:p.Gly78=
ENST00000706161.1:c.312T>G ENSP00000516239.1:p.Gly104=
ENST00000706162.1:c.234T>G ENSP00000516240.1:p.Gly78=
ENST00000706163.1:c.50-81849T>G ENSP00000516241.1:n.50-81849T>G
ENST00000222792.11:c.234T>G MANE Select ENSP00000222792.7:p.Gly78=
ENST00000644824.1:c.459T>G ENSP00000495614.1:p.Gly153=
ENST00000222792.10:c.234T>G ENSP00000222792.6:p.Gly78=
ENST00000409350.5:c.273T>G ENSP00000386968.1:p.Gly91=
ENST00000409922.5:n.445T>G
ENST00000409964.6:n.433T>G
ENST00000412536.5:n.254T>G
ENST00000435288.6:c.168+4728T>G ENSP00000400282.3:n.168+4728T>G
ENST00000439384.5:c.459T>G ENSP00000409843.1:p.Gly153=
ENST00000474070.5:c.334T>G
ENST00000478128.6:n.328T>G
ENST00000482820.6:n.443T>G
ENST00000491856.1:n.1783T>G
ENST00000495789.6:c.234T>G ENSP00000438587.2:p.Gly78=
ENST00000539389.5:c.234T>G ENSP00000440526.2:p.Gly78=
ENST00000539406.5:c.234T>G ENSP00000444063.2:p.Gly78=
NM_001293069.1:c.459T>G NP_001279998.1:p.Gly153=
NM_001293070.1:c.273T>G NP_001279999.1:p.Gly91=
NM_001293071.1:c.129T>G NP_001280000.1:p.Gly43=
NM_001293072.1:c.189T>G NP_001280001.1:p.Gly63=
NM_004067.3:c.234T>G NP_004058.1:p.Gly78=
XM_011515105.1:c.537T>G XP_011513407.1:p.Gly179=
XM_011515106.1:c.498T>G XP_011513408.1:p.Gly166=
XM_011515107.1:c.312T>G XP_011513409.1:p.Gly104=
XM_011515108.1:c.234T>G XP_011513410.1:p.Gly78=
XM_011515109.1:c.195T>G XP_011513411.1:p.Gly65=
XM_011515110.1:c.156T>G XP_011513412.1:p.Gly52=
XM_011515111.1:c.129T>G XP_011513413.1:p.Gly43=
XM_011515112.1:c.537T>G XP_011513414.1:p.Gly179=
XM_011515105.2:c.537T>G XP_011513407.1:p.Gly179=
XM_011515106.2:c.498T>G XP_011513408.1:p.Gly166=
XM_011515107.2:c.312T>G XP_011513409.1:p.Gly104=
XM_017011721.1:c.555T>G XP_016867210.1:p.Gly185=
XM_017011722.1:c.330T>G XP_016867211.1:p.Gly110=
NM_004067.4:c.234T>G MANE Select NP_004058.1:p.Gly78=
NM_001293070.2:c.273T>G NP_001279999.1:p.Gly91=
NM_001293071.2:c.129T>G NP_001280000.1:p.Gly43=
NM_001293072.2:c.189T>G NP_001280001.1:p.Gly63=
NM_001398427.1:c.-205T>G NP_001385356.1:n.-205T>G