Canonical Allele Identifier: CA317431543

Gene: KCNQ2

Linked Data

• dbSNP Id: rs897567326
• gnomAD v3: 20-63415253-ACAGC-A
• gnomAD v4: 20-63415253-ACAGC-A
• MyVariant Identifiers: chr20:g.62046607_62046610del (hg19) ; chr20:g.63415254_63415257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415260_63415263del , CM000682.2:g.63415260_63415263del	GRCh38
NC_000020.10:g.62046613_62046616del , CM000682.1:g.62046613_62046616del	GRCh37
NC_000020.9:g.61517057_61517060del	NCBI36
NG_009004.1:g.62384_62387del
NG_009004.2:g.62384_62387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-131_1248-128del	ENSP00000516702.1:n.1248-131_1248-128del
ENST00000359125.7:c.1302-131_1302-128del MANE Select	ENSP00000352035.2:n.1302-131_1302-128del
ENST00000637193.1:c.699-131_699-128del	ENSP00000490734.1:n.699-131_699-128del
ENST00000637584.1:n.75-167_75-164del
ENST00000344462.8:c.1248-167_1248-164del	ENSP00000339611.4:n.1248-167_1248-164del
ENST00000357249.6:c.906-167_906-164del	ENSP00000349789.3:n.906-167_906-164del
ENST00000359125.6:c.1302-131_1302-128del	ENSP00000352035.2:n.1302-131_1302-128del
ENST00000360480.7:c.1218-131_1218-128del	ENSP00000353668.3:n.1218-131_1218-128del
ENST00000370224.5:c.1218-131_1218-128del	ENSP00000359244.2:n.1218-131_1218-128del
ENST00000625514.2:c.1218-167_1218-164del	ENSP00000486040.1:n.1218-167_1218-164del
ENST00000626839.2:c.1248-131_1248-128del	ENSP00000486706.1:n.1248-131_1248-128del
ENST00000627221.2:c.362-131_362-128del
ENST00000629241.2:c.1218-131_1218-128del	ENSP00000487142.1:n.1218-131_1218-128del
ENST00000629676.2:c.1218-131_1218-128del	ENSP00000486194.1:n.1218-131_1218-128del
NM_004518.4:c.1218-131_1218-128del	NP_004509.2:n.1218-131_1218-128del
NM_172106.1:c.1248-131_1248-128del	NP_742104.1:n.1248-131_1248-128del
NM_172107.2:c.1302-131_1302-128del	NP_742105.1:n.1302-131_1302-128del
NM_172108.3:c.1248-167_1248-164del	NP_742106.1:n.1248-167_1248-164del
XM_006723787.1:c.1302-131_1302-128del	XP_006723850.1:n.1302-131_1302-128del
XM_011528807.1:c.1302-131_1302-128del	XP_011527109.1:n.1302-131_1302-128del
XM_011528808.1:c.1302-131_1302-128del	XP_011527110.1:n.1302-131_1302-128del
XM_011528809.1:c.1272-131_1272-128del	XP_011527111.1:n.1272-131_1272-128del
XM_011528810.1:c.1248-131_1248-128del	XP_011527112.1:n.1248-131_1248-128del
XM_011528811.1:c.1218-131_1218-128del	XP_011527113.1:n.1218-131_1218-128del
XM_011528812.1:c.1302-131_1302-128del	XP_011527114.1:n.1302-131_1302-128del
XM_011528813.1:c.1176-131_1176-128del	XP_011527115.1:n.1176-131_1176-128del
XM_011528814.1:c.783-131_783-128del	XP_011527116.1:n.783-131_783-128del
XM_011528815.1:c.1302-131_1302-128del	XP_011527117.1:n.1302-131_1302-128del
NM_004518.5:c.1218-131_1218-128del	NP_004509.2:n.1218-131_1218-128del
NM_172106.2:c.1248-131_1248-128del	NP_742104.1:n.1248-131_1248-128del
NM_172107.3:c.1302-131_1302-128del	NP_742105.1:n.1302-131_1302-128del
NM_172108.4:c.1248-167_1248-164del	NP_742106.1:n.1248-167_1248-164del
XM_011528810.2:c.1248-131_1248-128del	XP_011527112.1:n.1248-131_1248-128del
XM_011528811.2:c.1218-131_1218-128del	XP_011527113.1:n.1218-131_1218-128del
XM_017027841.2:c.1248-131_1248-128del	XP_016883330.1:n.1248-131_1248-128del
XM_017027842.2:c.1248-131_1248-128del	XP_016883331.1:n.1248-131_1248-128del
XM_017027843.1:c.1179-131_1179-128del	XP_016883332.1:n.1179-131_1179-128del
XM_017027844.2:c.1248-131_1248-128del	XP_016883333.1:n.1248-131_1248-128del
XM_017027845.1:c.210-131_210-128del	XP_016883334.1:n.210-131_210-128del
NM_004518.6:c.1218-131_1218-128del	NP_004509.2:n.1218-131_1218-128del
NM_172106.3:c.1248-131_1248-128del	NP_742104.1:n.1248-131_1248-128del
NM_172107.4:c.1302-131_1302-128del MANE Select	NP_742105.1:n.1302-131_1302-128del
NM_172108.5:c.1248-167_1248-164del	NP_742106.1:n.1248-167_1248-164del
NM_001382235.1:c.1248-131_1248-128del	NP_001369164.1:n.1248-131_1248-128del