Canonical Allele Identifier: CA2653801081

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63415209-GGCCGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415214_63415219del , CM000682.2:g.63415214_63415219del	GRCh38
NC_000020.10:g.62046567_62046572del , CM000682.1:g.62046567_62046572del	GRCh37
NC_000020.9:g.61517011_61517016del	NCBI36
NG_009004.1:g.62426_62431del
NG_009004.2:g.62426_62431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-89_1248-84del	ENSP00000516702.1:n.1248-89_1248-84del
ENST00000359125.7:c.1302-89_1302-84del MANE Select	ENSP00000352035.2:n.1302-89_1302-84del
ENST00000637193.1:c.699-89_699-84del	ENSP00000490734.1:n.699-89_699-84del
ENST00000637584.1:n.75-125_75-120del
ENST00000344462.8:c.1248-125_1248-120del	ENSP00000339611.4:n.1248-125_1248-120del
ENST00000357249.6:c.906-125_906-120del	ENSP00000349789.3:n.906-125_906-120del
ENST00000359125.6:c.1302-89_1302-84del	ENSP00000352035.2:n.1302-89_1302-84del
ENST00000360480.7:c.1218-89_1218-84del	ENSP00000353668.3:n.1218-89_1218-84del
ENST00000370224.5:c.1218-89_1218-84del	ENSP00000359244.2:n.1218-89_1218-84del
ENST00000625514.2:c.1218-125_1218-120del	ENSP00000486040.1:n.1218-125_1218-120del
ENST00000626839.2:c.1248-89_1248-84del	ENSP00000486706.1:n.1248-89_1248-84del
ENST00000627221.2:c.362-89_362-84del
ENST00000629241.2:c.1218-89_1218-84del	ENSP00000487142.1:n.1218-89_1218-84del
ENST00000629676.2:c.1218-89_1218-84del	ENSP00000486194.1:n.1218-89_1218-84del
NM_004518.4:c.1218-89_1218-84del	NP_004509.2:n.1218-89_1218-84del
NM_172106.1:c.1248-89_1248-84del	NP_742104.1:n.1248-89_1248-84del
NM_172107.2:c.1302-89_1302-84del	NP_742105.1:n.1302-89_1302-84del
NM_172108.3:c.1248-125_1248-120del	NP_742106.1:n.1248-125_1248-120del
XM_006723787.1:c.1302-89_1302-84del	XP_006723850.1:n.1302-89_1302-84del
XM_011528807.1:c.1302-89_1302-84del	XP_011527109.1:n.1302-89_1302-84del
XM_011528808.1:c.1302-89_1302-84del	XP_011527110.1:n.1302-89_1302-84del
XM_011528809.1:c.1272-89_1272-84del	XP_011527111.1:n.1272-89_1272-84del
XM_011528810.1:c.1248-89_1248-84del	XP_011527112.1:n.1248-89_1248-84del
XM_011528811.1:c.1218-89_1218-84del	XP_011527113.1:n.1218-89_1218-84del
XM_011528812.1:c.1302-89_1302-84del	XP_011527114.1:n.1302-89_1302-84del
XM_011528813.1:c.1176-89_1176-84del	XP_011527115.1:n.1176-89_1176-84del
XM_011528814.1:c.783-89_783-84del	XP_011527116.1:n.783-89_783-84del
XM_011528815.1:c.1302-89_1302-84del	XP_011527117.1:n.1302-89_1302-84del
NM_004518.5:c.1218-89_1218-84del	NP_004509.2:n.1218-89_1218-84del
NM_172106.2:c.1248-89_1248-84del	NP_742104.1:n.1248-89_1248-84del
NM_172107.3:c.1302-89_1302-84del	NP_742105.1:n.1302-89_1302-84del
NM_172108.4:c.1248-125_1248-120del	NP_742106.1:n.1248-125_1248-120del
XM_011528810.2:c.1248-89_1248-84del	XP_011527112.1:n.1248-89_1248-84del
XM_011528811.2:c.1218-89_1218-84del	XP_011527113.1:n.1218-89_1218-84del
XM_017027841.2:c.1248-89_1248-84del	XP_016883330.1:n.1248-89_1248-84del
XM_017027842.2:c.1248-89_1248-84del	XP_016883331.1:n.1248-89_1248-84del
XM_017027843.1:c.1179-89_1179-84del	XP_016883332.1:n.1179-89_1179-84del
XM_017027844.2:c.1248-89_1248-84del	XP_016883333.1:n.1248-89_1248-84del
XM_017027845.1:c.210-89_210-84del	XP_016883334.1:n.210-89_210-84del
NM_004518.6:c.1218-89_1218-84del	NP_004509.2:n.1218-89_1218-84del
NM_172106.3:c.1248-89_1248-84del	NP_742104.1:n.1248-89_1248-84del
NM_172107.4:c.1302-89_1302-84del MANE Select	NP_742105.1:n.1302-89_1302-84del
NM_172108.5:c.1248-125_1248-120del	NP_742106.1:n.1248-125_1248-120del
NM_001382235.1:c.1248-89_1248-84del	NP_001369164.1:n.1248-89_1248-84del