Canonical Allele Identifier: CA2653807475

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63433674-G-GAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433675_63433678dup , CM000682.2:g.63433675_63433678dup	GRCh38
NC_000020.10:g.62065028_62065031dup , CM000682.1:g.62065028_62065031dup	GRCh37
NC_000020.9:g.61535472_61535475dup	NCBI36
NG_009004.1:g.43963_43966dup
NG_009004.2:g.43963_43966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1118+131_1118+134dup	ENSP00000516702.1:n.1118+131_1118+134dup
ENST00000359125.7:c.1118+131_1118+134dup MANE Select	ENSP00000352035.2:n.1118+131_1118+134dup
ENST00000635864.1:n.35_38dup
ENST00000637193.1:c.599+131_599+134dup	ENSP00000490734.1:n.599+131_599+134dup
ENST00000637890.1:n.68+131_69-135dup
ENST00000344462.8:c.1118+131_1118+134dup	ENSP00000339611.4:n.1118+131_1118+134dup
ENST00000357249.6:c.776+131_776+134dup	ENSP00000349789.3:n.776+131_776+134dup
ENST00000359125.6:c.1118+131_1118+134dup	ENSP00000352035.2:n.1118+131_1118+134dup
ENST00000360480.7:c.1118+131_1118+134dup	ENSP00000353668.3:n.1118+131_1118+134dup
ENST00000370221.3:n.1244+131_1244+134dup
ENST00000370224.5:c.1118+131_1118+134dup	ENSP00000359244.2:n.1118+131_1118+134dup
ENST00000625514.2:c.1118+131_1118+134dup	ENSP00000486040.1:n.1118+131_1118+134dup
ENST00000626839.2:c.1118+131_1118+134dup	ENSP00000486706.1:n.1118+131_1118+134dup
ENST00000627221.2:c.262+131_262+134dup
ENST00000629241.2:c.1118+131_1118+134dup	ENSP00000487142.1:n.1118+131_1118+134dup
ENST00000629676.2:c.1118+131_1118+134dup	ENSP00000486194.1:n.1118+131_1118+134dup
NM_004518.4:c.1118+131_1118+134dup	NP_004509.2:n.1118+131_1118+134dup
NM_172106.1:c.1118+131_1118+134dup	NP_742104.1:n.1118+131_1118+134dup
NM_172107.2:c.1118+131_1118+134dup	NP_742105.1:n.1118+131_1118+134dup
NM_172108.3:c.1118+131_1118+134dup	NP_742106.1:n.1118+131_1118+134dup
XM_006723787.1:c.1118+131_1118+134dup	XP_006723850.1:n.1118+131_1118+134dup
XM_011528807.1:c.1118+131_1118+134dup	XP_011527109.1:n.1118+131_1118+134dup
XM_011528808.1:c.1118+131_1118+134dup	XP_011527110.1:n.1118+131_1118+134dup
XM_011528809.1:c.1118+131_1118+134dup	XP_011527111.1:n.1118+131_1118+134dup
XM_011528810.1:c.1118+131_1118+134dup	XP_011527112.1:n.1118+131_1118+134dup
XM_011528811.1:c.1118+131_1118+134dup	XP_011527113.1:n.1118+131_1118+134dup
XM_011528812.1:c.1118+131_1118+134dup	XP_011527114.1:n.1118+131_1118+134dup
XM_011528813.1:c.992+131_992+134dup	XP_011527115.1:n.992+131_992+134dup
XM_011528814.1:c.599+131_599+134dup	XP_011527116.1:n.599+131_599+134dup
XM_011528815.1:c.1118+131_1118+134dup	XP_011527117.1:n.1118+131_1118+134dup
NM_004518.5:c.1118+131_1118+134dup	NP_004509.2:n.1118+131_1118+134dup
NM_172106.2:c.1118+131_1118+134dup	NP_742104.1:n.1118+131_1118+134dup
NM_172107.3:c.1118+131_1118+134dup	NP_742105.1:n.1118+131_1118+134dup
NM_172108.4:c.1118+131_1118+134dup	NP_742106.1:n.1118+131_1118+134dup
XM_011528810.2:c.1118+131_1118+134dup	XP_011527112.1:n.1118+131_1118+134dup
XM_011528811.2:c.1118+131_1118+134dup	XP_011527113.1:n.1118+131_1118+134dup
XM_017027841.2:c.1118+131_1118+134dup	XP_016883330.1:n.1118+131_1118+134dup
XM_017027842.2:c.1118+131_1118+134dup	XP_016883331.1:n.1118+131_1118+134dup
XM_017027843.1:c.1049+131_1049+134dup	XP_016883332.1:n.1049+131_1049+134dup
XM_017027844.2:c.1118+131_1118+134dup	XP_016883333.1:n.1118+131_1118+134dup
NM_004518.6:c.1118+131_1118+134dup	NP_004509.2:n.1118+131_1118+134dup
NM_172106.3:c.1118+131_1118+134dup	NP_742104.1:n.1118+131_1118+134dup
NM_172107.4:c.1118+131_1118+134dup MANE Select	NP_742105.1:n.1118+131_1118+134dup
NM_172108.5:c.1118+131_1118+134dup	NP_742106.1:n.1118+131_1118+134dup
NM_001382235.1:c.1118+131_1118+134dup	NP_001369164.1:n.1118+131_1118+134dup