Canonical Allele Identifier: CA1335424208
Gene: KCNJ13 HGNC NCBI
GIGYF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232771005T= , CM000664.2:g.232771005T= GRCh38
NC_000002.11:g.233635715T= , CM000664.1:g.233635715T= GRCh37
NC_000002.10:g.233343959T= NCBI36
NG_011847.1:g.78701T=
NG_016742.1:g.10561A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233826.4:c.358A= (KCNJ13) MANE Select ENSP00000233826.3:p.Ile120=
ENST00000373563.9:c.532+9569T= (GIGYF2) MANE Select ENSP00000362664.5:n.532+9569T=
ENST00000424038.2:c.*137+9569T= (GIGYF2) ENSP00000399064.1:n.*137+9569T=
ENST00000677450.1:c.13+2600T= (GIGYF2) ENSP00000503420.1:n.13+2600T=
ENST00000677591.1:c.-195+6395T= (GIGYF2) ENSP00000503061.1:n.-195+6395T=
ENST00000678230.1:c.25+5026T= (GIGYF2) ENSP00000504272.1:n.25+5026T=
ENST00000678339.1:c.-213+6395T= (GIGYF2) ENSP00000503437.1:n.-213+6395T=
ENST00000678466.1:c.-213+2746T= (GIGYF2) ENSP00000504219.1:n.-213+2746T=
ENST00000233826.3:c.358A= (KCNJ13) ENSP00000233826.3:p.Ile120=
ENST00000373563.8:c.532+9569T= (GIGYF2) ENSP00000362664.4:n.532+9569T=
ENST00000409196.7:c.532+9569T= (GIGYF2) ENSP00000387070.3:n.532+9569T=
ENST00000409451.7:c.533-5407T= (GIGYF2) ENSP00000387170.3:n.533-5407T=
ENST00000409480.5:c.533-5407T= (GIGYF2) ENSP00000386765.1:n.533-5407T=
ENST00000409547.5:c.532+9569T= (GIGYF2) ENSP00000386537.1:n.532+9569T=
ENST00000409779.1:c.224+134A= (KCNJ13) ENSP00000386408.1:n.224+134A=
ENST00000410029.1:c.358A= (KCNJ13) ENSP00000386251.1:p.Ile120=
ENST00000421778.1:c.13+2600T= (GIGYF2) ENSP00000390325.1:n.13+2600T=
ENST00000423659.5:c.379+14671T= (GIGYF2) ENSP00000404195.1:n.379+14671T=
ENST00000424038.1:c.*137+9569T= (GIGYF2) ENSP00000399064.1:n.*137+9569T=
ENST00000424414.6:c.-195+6395T= (GIGYF2) ENSP00000401261.2:n.-195+6395T=
ENST00000436349.5:c.-213+6395T= (GIGYF2) ENSP00000400076.1:n.-213+6395T=
ENST00000438786.1:c.118A= (KCNJ13) ENSP00000407284.1:p.Ile40=
ENST00000440945.5:c.532+9569T= (GIGYF2) ENSP00000410297.1:n.532+9569T=
ENST00000444142.1:c.260A= (KCNJ13)
ENST00000445650.5:c.25+5026T= (GIGYF2) ENSP00000392218.1:n.25+5026T=
ENST00000455139.5:c.-213+2746T= (GIGYF2) ENSP00000395299.1:n.-213+2746T=
ENST00000463554.5:n.685-19T= (GIGYF2)
ENST00000629305.2:c.533-5407T= (GIGYF2) ENSP00000487548.1:n.533-5407T=
NM_001103146.1:c.532+9569T= (GIGYF2) NP_001096616.1:n.532+9569T=
NM_001103147.1:c.533-5407T= (GIGYF2) NP_001096617.1:n.533-5407T=
NM_001103148.1:c.532+9569T= (GIGYF2) NP_001096618.1:n.532+9569T=
NM_001172416.1:c.224+134A= (KCNJ13) NP_001165887.1:n.224+134A=
NM_001172417.1:c.118A= (KCNJ13) NP_001165888.1:p.Ile40=
NM_002242.4:c.358A= (KCNJ13) MANE Select NP_002233.2:p.Ile120=
NM_015575.3:c.532+9569T= (GIGYF2) NP_056390.2:n.532+9569T=
NR_103492.1:n.645+9569T= (GIGYF2)
NM_001103146.3:c.532+9569T= (GIGYF2) MANE Select NP_001096616.1:n.532+9569T=
NM_001103147.2:c.533-5407T= (GIGYF2) NP_001096617.1:n.533-5407T=
NM_001103148.2:c.532+9569T= (GIGYF2) NP_001096618.1:n.532+9569T=
NM_015575.4:c.532+9569T= (GIGYF2) NP_056390.2:n.532+9569T=