Canonical Allele Identifier: CA1019278236

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63415327-C-CTGGGTGGGCAGCAAGCT
• gnomAD v4: 20-63415327-C-CTGGGTGGGCAGCAAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415327_63415328insTGGGTGGGCAGCAAGCT , CM000682.2:g.63415327_63415328insTGGGTGGGCAGCAAGCT	GRCh38
NC_000020.10:g.62046680_62046681insTGGGTGGGCAGCAAGCT , CM000682.1:g.62046680_62046681insTGGGTGGGCAGCAAGCT	GRCh37
NC_000020.9:g.61517124_61517125insTGGGTGGGCAGCAAGCT	NCBI36
NG_009004.1:g.62313_62314insAGCTTGCTGCCCACCCA
NG_009004.2:g.62313_62314insAGCTTGCTGCCCACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	ENSP00000516702.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
ENST00000359125.7:c.1302-202_1302-201insAGCTTGCTGCCCACCCA MANE Select	ENSP00000352035.2:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
ENST00000637193.1:c.699-202_699-201insAGCTTGCTGCCCACCCA	ENSP00000490734.1:n.699-202_699-201insAGCTTGCTGCCCACCCA
ENST00000637584.1:n.75-238_75-237insAGCTTGCTGCCCACCCA
ENST00000344462.8:c.1248-238_1248-237insAGCTTGCTGCCCACCCA	ENSP00000339611.4:n.1248-238_1248-237insAGCTTGCTGCCCACCCA
ENST00000357249.6:c.906-238_906-237insAGCTTGCTGCCCACCCA	ENSP00000349789.3:n.906-238_906-237insAGCTTGCTGCCCACCCA
ENST00000359125.6:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	ENSP00000352035.2:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
ENST00000360480.7:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	ENSP00000353668.3:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
ENST00000370224.5:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	ENSP00000359244.2:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
ENST00000625514.2:c.1218-238_1218-237insAGCTTGCTGCCCACCCA	ENSP00000486040.1:n.1218-238_1218-237insAGCTTGCTGCCCACCCA
ENST00000626839.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	ENSP00000486706.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
ENST00000627221.2:c.362-202_362-201insAGCTTGCTGCCCACCCA
ENST00000629241.2:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	ENSP00000487142.1:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
ENST00000629676.2:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	ENSP00000486194.1:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
NM_004518.4:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	NP_004509.2:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
NM_172106.1:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	NP_742104.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
NM_172107.2:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	NP_742105.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
NM_172108.3:c.1248-238_1248-237insAGCTTGCTGCCCACCCA	NP_742106.1:n.1248-238_1248-237insAGCTTGCTGCCCACCCA
XM_006723787.1:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	XP_006723850.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
XM_011528807.1:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	XP_011527109.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
XM_011528808.1:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	XP_011527110.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
XM_011528809.1:c.1272-202_1272-201insAGCTTGCTGCCCACCCA	XP_011527111.1:n.1272-202_1272-201insAGCTTGCTGCCCACCCA
XM_011528810.1:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	XP_011527112.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
XM_011528811.1:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	XP_011527113.1:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
XM_011528812.1:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	XP_011527114.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
XM_011528813.1:c.1176-202_1176-201insAGCTTGCTGCCCACCCA	XP_011527115.1:n.1176-202_1176-201insAGCTTGCTGCCCACCCA
XM_011528814.1:c.783-202_783-201insAGCTTGCTGCCCACCCA	XP_011527116.1:n.783-202_783-201insAGCTTGCTGCCCACCCA
XM_011528815.1:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	XP_011527117.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
NM_004518.5:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	NP_004509.2:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
NM_172106.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	NP_742104.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
NM_172107.3:c.1302-202_1302-201insAGCTTGCTGCCCACCCA	NP_742105.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
NM_172108.4:c.1248-238_1248-237insAGCTTGCTGCCCACCCA	NP_742106.1:n.1248-238_1248-237insAGCTTGCTGCCCACCCA
XM_011528810.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	XP_011527112.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
XM_011528811.2:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	XP_011527113.1:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
XM_017027841.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	XP_016883330.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
XM_017027842.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	XP_016883331.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
XM_017027843.1:c.1179-202_1179-201insAGCTTGCTGCCCACCCA	XP_016883332.1:n.1179-202_1179-201insAGCTTGCTGCCCACCCA
XM_017027844.2:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	XP_016883333.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
XM_017027845.1:c.210-202_210-201insAGCTTGCTGCCCACCCA	XP_016883334.1:n.210-202_210-201insAGCTTGCTGCCCACCCA
NM_004518.6:c.1218-202_1218-201insAGCTTGCTGCCCACCCA	NP_004509.2:n.1218-202_1218-201insAGCTTGCTGCCCACCCA
NM_172106.3:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	NP_742104.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA
NM_172107.4:c.1302-202_1302-201insAGCTTGCTGCCCACCCA MANE Select	NP_742105.1:n.1302-202_1302-201insAGCTTGCTGCCCACCCA
NM_172108.5:c.1248-238_1248-237insAGCTTGCTGCCCACCCA	NP_742106.1:n.1248-238_1248-237insAGCTTGCTGCCCACCCA
NM_001382235.1:c.1248-202_1248-201insAGCTTGCTGCCCACCCA	NP_001369164.1:n.1248-202_1248-201insAGCTTGCTGCCCACCCA