Canonical Allele Identifier: CA351013303

Gene: KCNJ13 GIGYF2

Linked Data

• gnomAD v4: 2-232770970-A-C
• MyVariant Identifiers: chr2:g.233635680A>C (hg19) ; chr2:g.232770970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232770970A>C , CM000664.2:g.232770970A>C	GRCh38
NC_000002.11:g.233635680A>C , CM000664.1:g.233635680A>C	GRCh37
NC_000002.10:g.233343924A>C	NCBI36
NG_011847.1:g.78666A>C
NG_016742.1:g.10596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233826.4:c.393T>G (KCNJ13) MANE Select	ENSP00000233826.3:p.Cys131Trp
ENST00000373563.9:c.532+9534A>C (GIGYF2) MANE Select	ENSP00000362664.5:n.532+9534A>C
ENST00000424038.2:c.*137+9534A>C (GIGYF2)	ENSP00000399064.1:n.*137+9534A>C
ENST00000677450.1:c.13+2565A>C (GIGYF2)	ENSP00000503420.1:n.13+2565A>C
ENST00000677591.1:c.-195+6360A>C (GIGYF2)	ENSP00000503061.1:n.-195+6360A>C
ENST00000678230.1:c.25+4991A>C (GIGYF2)	ENSP00000504272.1:n.25+4991A>C
ENST00000678339.1:c.-213+6360A>C (GIGYF2)	ENSP00000503437.1:n.-213+6360A>C
ENST00000678466.1:c.-213+2711A>C (GIGYF2)	ENSP00000504219.1:n.-213+2711A>C
ENST00000233826.3:c.393T>G (KCNJ13)	ENSP00000233826.3:p.Cys131Trp
ENST00000373563.8:c.532+9534A>C (GIGYF2)	ENSP00000362664.4:n.532+9534A>C
ENST00000409196.7:c.532+9534A>C (GIGYF2)	ENSP00000387070.3:n.532+9534A>C
ENST00000409451.7:c.533-5442A>C (GIGYF2)	ENSP00000387170.3:n.533-5442A>C
ENST00000409480.5:c.533-5442A>C (GIGYF2)	ENSP00000386765.1:n.533-5442A>C
ENST00000409547.5:c.532+9534A>C (GIGYF2)	ENSP00000386537.1:n.532+9534A>C
ENST00000409779.1:c.224+169T>G (KCNJ13)	ENSP00000386408.1:n.224+169T>G
ENST00000410029.1:c.393T>G (KCNJ13)	ENSP00000386251.1:p.Cys131Trp
ENST00000421778.1:c.13+2565A>C (GIGYF2)	ENSP00000390325.1:n.13+2565A>C
ENST00000423659.5:c.379+14636A>C (GIGYF2)	ENSP00000404195.1:n.379+14636A>C
ENST00000424038.1:c.*137+9534A>C (GIGYF2)	ENSP00000399064.1:n.*137+9534A>C
ENST00000424414.6:c.-195+6360A>C (GIGYF2)	ENSP00000401261.2:n.-195+6360A>C
ENST00000436349.5:c.-213+6360A>C (GIGYF2)	ENSP00000400076.1:n.-213+6360A>C
ENST00000438786.1:c.153T>G (KCNJ13)	ENSP00000407284.1:p.Cys51Trp
ENST00000440945.5:c.532+9534A>C (GIGYF2)	ENSP00000410297.1:n.532+9534A>C
ENST00000444142.1:c.295T>G (KCNJ13)
ENST00000445650.5:c.25+4991A>C (GIGYF2)	ENSP00000392218.1:n.25+4991A>C
ENST00000455139.5:c.-213+2711A>C (GIGYF2)	ENSP00000395299.1:n.-213+2711A>C
ENST00000463554.5:n.685-54A>C (GIGYF2)
ENST00000629305.2:c.533-5442A>C (GIGYF2)	ENSP00000487548.1:n.533-5442A>C
NM_001103146.1:c.532+9534A>C (GIGYF2)	NP_001096616.1:n.532+9534A>C
NM_001103147.1:c.533-5442A>C (GIGYF2)	NP_001096617.1:n.533-5442A>C
NM_001103148.1:c.532+9534A>C (GIGYF2)	NP_001096618.1:n.532+9534A>C
NM_001172416.1:c.224+169T>G (KCNJ13)	NP_001165887.1:n.224+169T>G
NM_001172417.1:c.153T>G (KCNJ13)	NP_001165888.1:p.Cys51Trp
NM_002242.4:c.393T>G (KCNJ13) MANE Select	NP_002233.2:p.Cys131Trp
NM_015575.3:c.532+9534A>C (GIGYF2)	NP_056390.2:n.532+9534A>C
NR_103492.1:n.645+9534A>C (GIGYF2)
NM_001103146.3:c.532+9534A>C (GIGYF2) MANE Select	NP_001096616.1:n.532+9534A>C
NM_001103147.2:c.533-5442A>C (GIGYF2)	NP_001096617.1:n.533-5442A>C
NM_001103148.2:c.532+9534A>C (GIGYF2)	NP_001096618.1:n.532+9534A>C
NM_015575.4:c.532+9534A>C (GIGYF2)	NP_056390.2:n.532+9534A>C