Canonical Allele Identifier: CA1019278173

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63415294-ACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGG-A
• gnomAD v4: 20-63415294-ACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415348_63415469del , CM000682.2:g.63415348_63415469del	GRCh38
NC_000020.10:g.62046701_62046822del , CM000682.1:g.62046701_62046822del	GRCh37
NC_000020.9:g.61517145_61517266del	NCBI36
NG_009004.1:g.62225_62346del
NG_009004.2:g.62225_62346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-290_1248-169del	ENSP00000516702.1:n.1248-290_1248-169del
ENST00000359125.7:c.1302-290_1302-169del MANE Select	ENSP00000352035.2:n.1302-290_1302-169del
ENST00000637193.1:c.699-290_699-169del	ENSP00000490734.1:n.699-290_699-169del
ENST00000637584.1:n.75-326_75-205del
ENST00000344462.8:c.1248-326_1248-205del	ENSP00000339611.4:n.1248-326_1248-205del
ENST00000357249.6:c.906-326_906-205del	ENSP00000349789.3:n.906-326_906-205del
ENST00000359125.6:c.1302-290_1302-169del	ENSP00000352035.2:n.1302-290_1302-169del
ENST00000360480.7:c.1218-290_1218-169del	ENSP00000353668.3:n.1218-290_1218-169del
ENST00000370224.5:c.1218-290_1218-169del	ENSP00000359244.2:n.1218-290_1218-169del
ENST00000625514.2:c.1218-326_1218-205del	ENSP00000486040.1:n.1218-326_1218-205del
ENST00000626839.2:c.1248-290_1248-169del	ENSP00000486706.1:n.1248-290_1248-169del
ENST00000627221.2:c.362-290_362-169del
ENST00000629241.2:c.1218-290_1218-169del	ENSP00000487142.1:n.1218-290_1218-169del
ENST00000629676.2:c.1218-290_1218-169del	ENSP00000486194.1:n.1218-290_1218-169del
NM_004518.4:c.1218-290_1218-169del	NP_004509.2:n.1218-290_1218-169del
NM_172106.1:c.1248-290_1248-169del	NP_742104.1:n.1248-290_1248-169del
NM_172107.2:c.1302-290_1302-169del	NP_742105.1:n.1302-290_1302-169del
NM_172108.3:c.1248-326_1248-205del	NP_742106.1:n.1248-326_1248-205del
XM_006723787.1:c.1302-290_1302-169del	XP_006723850.1:n.1302-290_1302-169del
XM_011528807.1:c.1302-290_1302-169del	XP_011527109.1:n.1302-290_1302-169del
XM_011528808.1:c.1302-290_1302-169del	XP_011527110.1:n.1302-290_1302-169del
XM_011528809.1:c.1272-290_1272-169del	XP_011527111.1:n.1272-290_1272-169del
XM_011528810.1:c.1248-290_1248-169del	XP_011527112.1:n.1248-290_1248-169del
XM_011528811.1:c.1218-290_1218-169del	XP_011527113.1:n.1218-290_1218-169del
XM_011528812.1:c.1302-290_1302-169del	XP_011527114.1:n.1302-290_1302-169del
XM_011528813.1:c.1176-290_1176-169del	XP_011527115.1:n.1176-290_1176-169del
XM_011528814.1:c.783-290_783-169del	XP_011527116.1:n.783-290_783-169del
XM_011528815.1:c.1302-290_1302-169del	XP_011527117.1:n.1302-290_1302-169del
NM_004518.5:c.1218-290_1218-169del	NP_004509.2:n.1218-290_1218-169del
NM_172106.2:c.1248-290_1248-169del	NP_742104.1:n.1248-290_1248-169del
NM_172107.3:c.1302-290_1302-169del	NP_742105.1:n.1302-290_1302-169del
NM_172108.4:c.1248-326_1248-205del	NP_742106.1:n.1248-326_1248-205del
XM_011528810.2:c.1248-290_1248-169del	XP_011527112.1:n.1248-290_1248-169del
XM_011528811.2:c.1218-290_1218-169del	XP_011527113.1:n.1218-290_1218-169del
XM_017027841.2:c.1248-290_1248-169del	XP_016883330.1:n.1248-290_1248-169del
XM_017027842.2:c.1248-290_1248-169del	XP_016883331.1:n.1248-290_1248-169del
XM_017027843.1:c.1179-290_1179-169del	XP_016883332.1:n.1179-290_1179-169del
XM_017027844.2:c.1248-290_1248-169del	XP_016883333.1:n.1248-290_1248-169del
XM_017027845.1:c.210-290_210-169del	XP_016883334.1:n.210-290_210-169del
NM_004518.6:c.1218-290_1218-169del	NP_004509.2:n.1218-290_1218-169del
NM_172106.3:c.1248-290_1248-169del	NP_742104.1:n.1248-290_1248-169del
NM_172107.4:c.1302-290_1302-169del MANE Select	NP_742105.1:n.1302-290_1302-169del
NM_172108.5:c.1248-326_1248-205del	NP_742106.1:n.1248-326_1248-205del
NM_001382235.1:c.1248-290_1248-169del	NP_001369164.1:n.1248-290_1248-169del