Canonical Allele Identifier: CA278972

Gene: KCNJ13 GIGYF2

Linked Data

• ClinVar Variation Id: 216947
• ClinVar RCV Id: RCV000197888 ; RCV000515663
• dbSNP Id: rs863224884
• MyVariant Identifiers: chr2:g.233635615G>A (hg19) ; chr2:g.232770905G>A (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232770905G>A , CM000664.2:g.232770905G>A	GRCh38
NC_000002.11:g.233635615G>A , CM000664.1:g.233635615G>A	GRCh37
NC_000002.10:g.233343859G>A	NCBI36
NG_011847.1:g.78601G>A
NG_016742.1:g.10661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233826.4:c.458C>T (KCNJ13) MANE Select	ENSP00000233826.3:p.Thr153Ile
ENST00000373563.9:c.532+9469G>A (GIGYF2) MANE Select	ENSP00000362664.5:n.532+9469G>A
ENST00000424038.2:c.*137+9469G>A (GIGYF2)	ENSP00000399064.1:n.*137+9469G>A
ENST00000677450.1:c.13+2500G>A (GIGYF2)	ENSP00000503420.1:n.13+2500G>A
ENST00000677591.1:c.-195+6295G>A (GIGYF2)	ENSP00000503061.1:n.-195+6295G>A
ENST00000678230.1:c.25+4926G>A (GIGYF2)	ENSP00000504272.1:n.25+4926G>A
ENST00000678339.1:c.-213+6295G>A (GIGYF2)	ENSP00000503437.1:n.-213+6295G>A
ENST00000678466.1:c.-213+2646G>A (GIGYF2)	ENSP00000504219.1:n.-213+2646G>A
ENST00000233826.3:c.458C>T (KCNJ13)	ENSP00000233826.3:p.Thr153Ile
ENST00000373563.8:c.532+9469G>A (GIGYF2)	ENSP00000362664.4:n.532+9469G>A
ENST00000409196.7:c.532+9469G>A (GIGYF2)	ENSP00000387070.3:n.532+9469G>A
ENST00000409451.7:c.533-5507G>A (GIGYF2)	ENSP00000387170.3:n.533-5507G>A
ENST00000409480.5:c.533-5507G>A (GIGYF2)	ENSP00000386765.1:n.533-5507G>A
ENST00000409547.5:c.532+9469G>A (GIGYF2)	ENSP00000386537.1:n.532+9469G>A
ENST00000409779.1:c.224+234C>T (KCNJ13)	ENSP00000386408.1:n.224+234C>T
ENST00000410029.1:c.458C>T (KCNJ13)	ENSP00000386251.1:p.Thr153Ile
ENST00000421778.1:c.13+2500G>A (GIGYF2)	ENSP00000390325.1:n.13+2500G>A
ENST00000423659.5:c.379+14571G>A (GIGYF2)	ENSP00000404195.1:n.379+14571G>A
ENST00000424038.1:c.*137+9469G>A (GIGYF2)	ENSP00000399064.1:n.*137+9469G>A
ENST00000424414.6:c.-195+6295G>A (GIGYF2)	ENSP00000401261.2:n.-195+6295G>A
ENST00000436349.5:c.-213+6295G>A (GIGYF2)	ENSP00000400076.1:n.-213+6295G>A
ENST00000438786.1:c.218C>T (KCNJ13)	ENSP00000407284.1:p.Thr73Ile
ENST00000440945.5:c.532+9469G>A (GIGYF2)	ENSP00000410297.1:n.532+9469G>A
ENST00000444142.1:c.360C>T (KCNJ13)
ENST00000445650.5:c.25+4926G>A (GIGYF2)	ENSP00000392218.1:n.25+4926G>A
ENST00000455139.5:c.-213+2646G>A (GIGYF2)	ENSP00000395299.1:n.-213+2646G>A
ENST00000463554.5:n.685-119G>A (GIGYF2)
ENST00000629305.2:c.533-5507G>A (GIGYF2)	ENSP00000487548.1:n.533-5507G>A
NM_001103146.1:c.532+9469G>A (GIGYF2)	NP_001096616.1:n.532+9469G>A
NM_001103147.1:c.533-5507G>A (GIGYF2)	NP_001096617.1:n.533-5507G>A
NM_001103148.1:c.532+9469G>A (GIGYF2)	NP_001096618.1:n.532+9469G>A
NM_001172416.1:c.224+234C>T (KCNJ13)	NP_001165887.1:n.224+234C>T
NM_001172417.1:c.218C>T (KCNJ13)	NP_001165888.1:p.Thr73Ile
NM_002242.4:c.458C>T (KCNJ13) MANE Select	NP_002233.2:p.Thr153Ile
NM_015575.3:c.532+9469G>A (GIGYF2)	NP_056390.2:n.532+9469G>A
NR_103492.1:n.645+9469G>A (GIGYF2)
NM_001103146.3:c.532+9469G>A (GIGYF2) MANE Select	NP_001096616.1:n.532+9469G>A
NM_001103147.2:c.533-5507G>A (GIGYF2)	NP_001096617.1:n.533-5507G>A
NM_001103148.2:c.532+9469G>A (GIGYF2)	NP_001096618.1:n.532+9469G>A
NM_015575.4:c.532+9469G>A (GIGYF2)	NP_056390.2:n.532+9469G>A