Canonical Allele Identifier: CA2653801109

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63415217-C-CATGGGCGGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415217_63415218insATGGGCGGCGT , CM000682.2:g.63415217_63415218insATGGGCGGCGT	GRCh38
NC_000020.10:g.62046570_62046571insATGGGCGGCGT , CM000682.1:g.62046570_62046571insATGGGCGGCGT	GRCh37
NC_000020.9:g.61517014_61517015insATGGGCGGCGT	NCBI36
NG_009004.1:g.62423_62424insACGCCGCCCAT
NG_009004.2:g.62423_62424insACGCCGCCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-92_1248-91insACGCCGCCCAT	ENSP00000516702.1:n.1248-92_1248-91insACGCCGCCCAT
ENST00000359125.7:c.1302-92_1302-91insACGCCGCCCAT MANE Select	ENSP00000352035.2:n.1302-92_1302-91insACGCCGCCCAT
ENST00000637193.1:c.699-92_699-91insACGCCGCCCAT	ENSP00000490734.1:n.699-92_699-91insACGCCGCCCAT
ENST00000637584.1:n.75-128_75-127insACGCCGCCCAT
ENST00000344462.8:c.1248-128_1248-127insACGCCGCCCAT	ENSP00000339611.4:n.1248-128_1248-127insACGCCGCCCAT
ENST00000357249.6:c.906-128_906-127insACGCCGCCCAT	ENSP00000349789.3:n.906-128_906-127insACGCCGCCCAT
ENST00000359125.6:c.1302-92_1302-91insACGCCGCCCAT	ENSP00000352035.2:n.1302-92_1302-91insACGCCGCCCAT
ENST00000360480.7:c.1218-92_1218-91insACGCCGCCCAT	ENSP00000353668.3:n.1218-92_1218-91insACGCCGCCCAT
ENST00000370224.5:c.1218-92_1218-91insACGCCGCCCAT	ENSP00000359244.2:n.1218-92_1218-91insACGCCGCCCAT
ENST00000625514.2:c.1218-128_1218-127insACGCCGCCCAT	ENSP00000486040.1:n.1218-128_1218-127insACGCCGCCCAT
ENST00000626839.2:c.1248-92_1248-91insACGCCGCCCAT	ENSP00000486706.1:n.1248-92_1248-91insACGCCGCCCAT
ENST00000627221.2:c.362-92_362-91insACGCCGCCCAT
ENST00000629241.2:c.1218-92_1218-91insACGCCGCCCAT	ENSP00000487142.1:n.1218-92_1218-91insACGCCGCCCAT
ENST00000629676.2:c.1218-92_1218-91insACGCCGCCCAT	ENSP00000486194.1:n.1218-92_1218-91insACGCCGCCCAT
NM_004518.4:c.1218-92_1218-91insACGCCGCCCAT	NP_004509.2:n.1218-92_1218-91insACGCCGCCCAT
NM_172106.1:c.1248-92_1248-91insACGCCGCCCAT	NP_742104.1:n.1248-92_1248-91insACGCCGCCCAT
NM_172107.2:c.1302-92_1302-91insACGCCGCCCAT	NP_742105.1:n.1302-92_1302-91insACGCCGCCCAT
NM_172108.3:c.1248-128_1248-127insACGCCGCCCAT	NP_742106.1:n.1248-128_1248-127insACGCCGCCCAT
XM_006723787.1:c.1302-92_1302-91insACGCCGCCCAT	XP_006723850.1:n.1302-92_1302-91insACGCCGCCCAT
XM_011528807.1:c.1302-92_1302-91insACGCCGCCCAT	XP_011527109.1:n.1302-92_1302-91insACGCCGCCCAT
XM_011528808.1:c.1302-92_1302-91insACGCCGCCCAT	XP_011527110.1:n.1302-92_1302-91insACGCCGCCCAT
XM_011528809.1:c.1272-92_1272-91insACGCCGCCCAT	XP_011527111.1:n.1272-92_1272-91insACGCCGCCCAT
XM_011528810.1:c.1248-92_1248-91insACGCCGCCCAT	XP_011527112.1:n.1248-92_1248-91insACGCCGCCCAT
XM_011528811.1:c.1218-92_1218-91insACGCCGCCCAT	XP_011527113.1:n.1218-92_1218-91insACGCCGCCCAT
XM_011528812.1:c.1302-92_1302-91insACGCCGCCCAT	XP_011527114.1:n.1302-92_1302-91insACGCCGCCCAT
XM_011528813.1:c.1176-92_1176-91insACGCCGCCCAT	XP_011527115.1:n.1176-92_1176-91insACGCCGCCCAT
XM_011528814.1:c.783-92_783-91insACGCCGCCCAT	XP_011527116.1:n.783-92_783-91insACGCCGCCCAT
XM_011528815.1:c.1302-92_1302-91insACGCCGCCCAT	XP_011527117.1:n.1302-92_1302-91insACGCCGCCCAT
NM_004518.5:c.1218-92_1218-91insACGCCGCCCAT	NP_004509.2:n.1218-92_1218-91insACGCCGCCCAT
NM_172106.2:c.1248-92_1248-91insACGCCGCCCAT	NP_742104.1:n.1248-92_1248-91insACGCCGCCCAT
NM_172107.3:c.1302-92_1302-91insACGCCGCCCAT	NP_742105.1:n.1302-92_1302-91insACGCCGCCCAT
NM_172108.4:c.1248-128_1248-127insACGCCGCCCAT	NP_742106.1:n.1248-128_1248-127insACGCCGCCCAT
XM_011528810.2:c.1248-92_1248-91insACGCCGCCCAT	XP_011527112.1:n.1248-92_1248-91insACGCCGCCCAT
XM_011528811.2:c.1218-92_1218-91insACGCCGCCCAT	XP_011527113.1:n.1218-92_1218-91insACGCCGCCCAT
XM_017027841.2:c.1248-92_1248-91insACGCCGCCCAT	XP_016883330.1:n.1248-92_1248-91insACGCCGCCCAT
XM_017027842.2:c.1248-92_1248-91insACGCCGCCCAT	XP_016883331.1:n.1248-92_1248-91insACGCCGCCCAT
XM_017027843.1:c.1179-92_1179-91insACGCCGCCCAT	XP_016883332.1:n.1179-92_1179-91insACGCCGCCCAT
XM_017027844.2:c.1248-92_1248-91insACGCCGCCCAT	XP_016883333.1:n.1248-92_1248-91insACGCCGCCCAT
XM_017027845.1:c.210-92_210-91insACGCCGCCCAT	XP_016883334.1:n.210-92_210-91insACGCCGCCCAT
NM_004518.6:c.1218-92_1218-91insACGCCGCCCAT	NP_004509.2:n.1218-92_1218-91insACGCCGCCCAT
NM_172106.3:c.1248-92_1248-91insACGCCGCCCAT	NP_742104.1:n.1248-92_1248-91insACGCCGCCCAT
NM_172107.4:c.1302-92_1302-91insACGCCGCCCAT MANE Select	NP_742105.1:n.1302-92_1302-91insACGCCGCCCAT
NM_172108.5:c.1248-128_1248-127insACGCCGCCCAT	NP_742106.1:n.1248-128_1248-127insACGCCGCCCAT
NM_001382235.1:c.1248-92_1248-91insACGCCGCCCAT	NP_001369164.1:n.1248-92_1248-91insACGCCGCCCAT