Canonical Allele Identifier: CA2170061

Gene: KCNJ13 GIGYF2

Linked Data

• ClinVar Variation Id: 1082511
• ClinVar RCV Id: RCV001398845
• dbSNP Id: rs747184742
• ExAC: 2:233635707 A / G
• gnomAD v2: 2-233635707-A-G
• gnomAD v3: 2-232770997-A-G
• gnomAD v4: 2-232770997-A-G
• MyVariant Identifiers: chr2:g.233635707A>G (hg19) ; chr2:g.232770997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232770997A>G , CM000664.2:g.232770997A>G	GRCh38
NC_000002.11:g.233635707A>G , CM000664.1:g.233635707A>G	GRCh37
NC_000002.10:g.233343951A>G	NCBI36
NG_011847.1:g.78693A>G
NG_016742.1:g.10569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233826.4:c.366T>C (KCNJ13) MANE Select	ENSP00000233826.3:p.Tyr122=
ENST00000373563.9:c.532+9561A>G (GIGYF2) MANE Select	ENSP00000362664.5:n.532+9561A>G
ENST00000424038.2:c.*137+9561A>G (GIGYF2)	ENSP00000399064.1:n.*137+9561A>G
ENST00000677450.1:c.13+2592A>G (GIGYF2)	ENSP00000503420.1:n.13+2592A>G
ENST00000677591.1:c.-195+6387A>G (GIGYF2)	ENSP00000503061.1:n.-195+6387A>G
ENST00000678230.1:c.25+5018A>G (GIGYF2)	ENSP00000504272.1:n.25+5018A>G
ENST00000678339.1:c.-213+6387A>G (GIGYF2)	ENSP00000503437.1:n.-213+6387A>G
ENST00000678466.1:c.-213+2738A>G (GIGYF2)	ENSP00000504219.1:n.-213+2738A>G
ENST00000233826.3:c.366T>C (KCNJ13)	ENSP00000233826.3:p.Tyr122=
ENST00000373563.8:c.532+9561A>G (GIGYF2)	ENSP00000362664.4:n.532+9561A>G
ENST00000409196.7:c.532+9561A>G (GIGYF2)	ENSP00000387070.3:n.532+9561A>G
ENST00000409451.7:c.533-5415A>G (GIGYF2)	ENSP00000387170.3:n.533-5415A>G
ENST00000409480.5:c.533-5415A>G (GIGYF2)	ENSP00000386765.1:n.533-5415A>G
ENST00000409547.5:c.532+9561A>G (GIGYF2)	ENSP00000386537.1:n.532+9561A>G
ENST00000409779.1:c.224+142T>C (KCNJ13)	ENSP00000386408.1:n.224+142T>C
ENST00000410029.1:c.366T>C (KCNJ13)	ENSP00000386251.1:p.Tyr122=
ENST00000421778.1:c.13+2592A>G (GIGYF2)	ENSP00000390325.1:n.13+2592A>G
ENST00000423659.5:c.379+14663A>G (GIGYF2)	ENSP00000404195.1:n.379+14663A>G
ENST00000424038.1:c.*137+9561A>G (GIGYF2)	ENSP00000399064.1:n.*137+9561A>G
ENST00000424414.6:c.-195+6387A>G (GIGYF2)	ENSP00000401261.2:n.-195+6387A>G
ENST00000436349.5:c.-213+6387A>G (GIGYF2)	ENSP00000400076.1:n.-213+6387A>G
ENST00000438786.1:c.126T>C (KCNJ13)	ENSP00000407284.1:p.Tyr42=
ENST00000440945.5:c.532+9561A>G (GIGYF2)	ENSP00000410297.1:n.532+9561A>G
ENST00000444142.1:c.268T>C (KCNJ13)
ENST00000445650.5:c.25+5018A>G (GIGYF2)	ENSP00000392218.1:n.25+5018A>G
ENST00000455139.5:c.-213+2738A>G (GIGYF2)	ENSP00000395299.1:n.-213+2738A>G
ENST00000463554.5:n.685-27A>G (GIGYF2)
ENST00000629305.2:c.533-5415A>G (GIGYF2)	ENSP00000487548.1:n.533-5415A>G
NM_001103146.1:c.532+9561A>G (GIGYF2)	NP_001096616.1:n.532+9561A>G
NM_001103147.1:c.533-5415A>G (GIGYF2)	NP_001096617.1:n.533-5415A>G
NM_001103148.1:c.532+9561A>G (GIGYF2)	NP_001096618.1:n.532+9561A>G
NM_001172416.1:c.224+142T>C (KCNJ13)	NP_001165887.1:n.224+142T>C
NM_001172417.1:c.126T>C (KCNJ13)	NP_001165888.1:p.Tyr42=
NM_002242.4:c.366T>C (KCNJ13) MANE Select	NP_002233.2:p.Tyr122=
NM_015575.3:c.532+9561A>G (GIGYF2)	NP_056390.2:n.532+9561A>G
NR_103492.1:n.645+9561A>G (GIGYF2)
NM_001103146.3:c.532+9561A>G (GIGYF2) MANE Select	NP_001096616.1:n.532+9561A>G
NM_001103147.2:c.533-5415A>G (GIGYF2)	NP_001096617.1:n.533-5415A>G
NM_001103148.2:c.532+9561A>G (GIGYF2)	NP_001096618.1:n.532+9561A>G
NM_015575.4:c.532+9561A>G (GIGYF2)	NP_056390.2:n.532+9561A>G