Canonical Allele Identifier: CA2737061094

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2145558144

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415154_63415155insGGACAGAC , CM000682.2:g.63415154_63415155insGGACAGAC	GRCh38
NC_000020.10:g.62046507_62046508insGGACAGAC , CM000682.1:g.62046507_62046508insGGACAGAC	GRCh37
NC_000020.9:g.61516951_61516952insGGACAGAC	NCBI36
NG_009004.1:g.62493_62494insCGTCTGTC
NG_009004.2:g.62493_62494insCGTCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-22_1248-21insCGTCTGTC	ENSP00000516702.1:n.1248-22_1248-21insCGTCTGTC
ENST00000359125.7:c.1302-22_1302-21insCGTCTGTC MANE Select	ENSP00000352035.2:n.1302-22_1302-21insCGTCTGTC
ENST00000637193.1:c.699-22_699-21insCGTCTGTC	ENSP00000490734.1:n.699-22_699-21insCGTCTGTC
ENST00000637584.1:n.75-58_75-57insCGTCTGTC
ENST00000344462.8:c.1248-58_1248-57insCGTCTGTC	ENSP00000339611.4:n.1248-58_1248-57insCGTCTGTC
ENST00000357249.6:c.906-58_906-57insCGTCTGTC	ENSP00000349789.3:n.906-58_906-57insCGTCTGTC
ENST00000359125.6:c.1302-22_1302-21insCGTCTGTC	ENSP00000352035.2:n.1302-22_1302-21insCGTCTGTC
ENST00000360480.7:c.1218-22_1218-21insCGTCTGTC	ENSP00000353668.3:n.1218-22_1218-21insCGTCTGTC
ENST00000370224.5:c.1218-22_1218-21insCGTCTGTC	ENSP00000359244.2:n.1218-22_1218-21insCGTCTGTC
ENST00000625514.2:c.1218-58_1218-57insCGTCTGTC	ENSP00000486040.1:n.1218-58_1218-57insCGTCTGTC
ENST00000626839.2:c.1248-22_1248-21insCGTCTGTC	ENSP00000486706.1:n.1248-22_1248-21insCGTCTGTC
ENST00000627221.2:c.362-22_362-21insCGTCTGTC
ENST00000629241.2:c.1218-22_1218-21insCGTCTGTC	ENSP00000487142.1:n.1218-22_1218-21insCGTCTGTC
ENST00000629676.2:c.1218-22_1218-21insCGTCTGTC	ENSP00000486194.1:n.1218-22_1218-21insCGTCTGTC
NM_004518.4:c.1218-22_1218-21insCGTCTGTC	NP_004509.2:n.1218-22_1218-21insCGTCTGTC
NM_172106.1:c.1248-22_1248-21insCGTCTGTC	NP_742104.1:n.1248-22_1248-21insCGTCTGTC
NM_172107.2:c.1302-22_1302-21insCGTCTGTC	NP_742105.1:n.1302-22_1302-21insCGTCTGTC
NM_172108.3:c.1248-58_1248-57insCGTCTGTC	NP_742106.1:n.1248-58_1248-57insCGTCTGTC
XM_006723787.1:c.1302-22_1302-21insCGTCTGTC	XP_006723850.1:n.1302-22_1302-21insCGTCTGTC
XM_011528807.1:c.1302-22_1302-21insCGTCTGTC	XP_011527109.1:n.1302-22_1302-21insCGTCTGTC
XM_011528808.1:c.1302-22_1302-21insCGTCTGTC	XP_011527110.1:n.1302-22_1302-21insCGTCTGTC
XM_011528809.1:c.1272-22_1272-21insCGTCTGTC	XP_011527111.1:n.1272-22_1272-21insCGTCTGTC
XM_011528810.1:c.1248-22_1248-21insCGTCTGTC	XP_011527112.1:n.1248-22_1248-21insCGTCTGTC
XM_011528811.1:c.1218-22_1218-21insCGTCTGTC	XP_011527113.1:n.1218-22_1218-21insCGTCTGTC
XM_011528812.1:c.1302-22_1302-21insCGTCTGTC	XP_011527114.1:n.1302-22_1302-21insCGTCTGTC
XM_011528813.1:c.1176-22_1176-21insCGTCTGTC	XP_011527115.1:n.1176-22_1176-21insCGTCTGTC
XM_011528814.1:c.783-22_783-21insCGTCTGTC	XP_011527116.1:n.783-22_783-21insCGTCTGTC
XM_011528815.1:c.1302-22_1302-21insCGTCTGTC	XP_011527117.1:n.1302-22_1302-21insCGTCTGTC
NM_004518.5:c.1218-22_1218-21insCGTCTGTC	NP_004509.2:n.1218-22_1218-21insCGTCTGTC
NM_172106.2:c.1248-22_1248-21insCGTCTGTC	NP_742104.1:n.1248-22_1248-21insCGTCTGTC
NM_172107.3:c.1302-22_1302-21insCGTCTGTC	NP_742105.1:n.1302-22_1302-21insCGTCTGTC
NM_172108.4:c.1248-58_1248-57insCGTCTGTC	NP_742106.1:n.1248-58_1248-57insCGTCTGTC
XM_011528810.2:c.1248-22_1248-21insCGTCTGTC	XP_011527112.1:n.1248-22_1248-21insCGTCTGTC
XM_011528811.2:c.1218-22_1218-21insCGTCTGTC	XP_011527113.1:n.1218-22_1218-21insCGTCTGTC
XM_017027841.2:c.1248-22_1248-21insCGTCTGTC	XP_016883330.1:n.1248-22_1248-21insCGTCTGTC
XM_017027842.2:c.1248-22_1248-21insCGTCTGTC	XP_016883331.1:n.1248-22_1248-21insCGTCTGTC
XM_017027843.1:c.1179-22_1179-21insCGTCTGTC	XP_016883332.1:n.1179-22_1179-21insCGTCTGTC
XM_017027844.2:c.1248-22_1248-21insCGTCTGTC	XP_016883333.1:n.1248-22_1248-21insCGTCTGTC
XM_017027845.1:c.210-22_210-21insCGTCTGTC	XP_016883334.1:n.210-22_210-21insCGTCTGTC
NM_004518.6:c.1218-22_1218-21insCGTCTGTC	NP_004509.2:n.1218-22_1218-21insCGTCTGTC
NM_172106.3:c.1248-22_1248-21insCGTCTGTC	NP_742104.1:n.1248-22_1248-21insCGTCTGTC
NM_172107.4:c.1302-22_1302-21insCGTCTGTC MANE Select	NP_742105.1:n.1302-22_1302-21insCGTCTGTC
NM_172108.5:c.1248-58_1248-57insCGTCTGTC	NP_742106.1:n.1248-58_1248-57insCGTCTGTC
NM_001382235.1:c.1248-22_1248-21insCGTCTGTC	NP_001369164.1:n.1248-22_1248-21insCGTCTGTC