Canonical Allele Identifier: CA317447370

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1491345052
• gnomAD v4: 20-63431299-ACC-A
• MyVariant Identifiers: chr20:g.62062653_62062654del (hg19) ; chr20:g.63431300_63431301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431300_63431301del , CM000682.2:g.63431300_63431301del	GRCh38
NC_000020.10:g.62062653_62062654del , CM000682.1:g.62062653_62062654del	GRCh37
NC_000020.9:g.61533097_61533098del	NCBI36
NG_009004.1:g.46340_46341del
NG_009004.2:g.46340_46341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1148+39_1148+40del	ENSP00000516702.1:n.1148+39_1148+40del
ENST00000359125.7:c.1148+39_1148+40del MANE Select	ENSP00000352035.2:n.1148+39_1148+40del
ENST00000636638.1:n.31+2145_31+2146del
ENST00000637193.1:c.599+2508_599+2509del	ENSP00000490734.1:n.599+2508_599+2509del
ENST00000344462.8:c.1148+39_1148+40del	ENSP00000339611.4:n.1148+39_1148+40del
ENST00000357249.6:c.806+39_806+40del	ENSP00000349789.3:n.806+39_806+40del
ENST00000359125.6:c.1148+39_1148+40del	ENSP00000352035.2:n.1148+39_1148+40del
ENST00000360480.7:c.1118+2508_1118+2509del	ENSP00000353668.3:n.1118+2508_1118+2509del
ENST00000370221.3:n.1274+39_1274+40del
ENST00000370224.5:c.1118+2508_1118+2509del	ENSP00000359244.2:n.1118+2508_1118+2509del
ENST00000625514.2:c.1118+2508_1118+2509del	ENSP00000486040.1:n.1118+2508_1118+2509del
ENST00000626839.2:c.1148+39_1148+40del	ENSP00000486706.1:n.1148+39_1148+40del
ENST00000627221.2:c.262+2508_262+2509del
ENST00000629241.2:c.1118+2508_1118+2509del	ENSP00000487142.1:n.1118+2508_1118+2509del
ENST00000629676.2:c.1118+2508_1118+2509del	ENSP00000486194.1:n.1118+2508_1118+2509del
NM_004518.4:c.1118+2508_1118+2509del	NP_004509.2:n.1118+2508_1118+2509del
NM_172106.1:c.1148+39_1148+40del	NP_742104.1:n.1148+39_1148+40del
NM_172107.2:c.1148+39_1148+40del	NP_742105.1:n.1148+39_1148+40del
NM_172108.3:c.1148+39_1148+40del	NP_742106.1:n.1148+39_1148+40del
XM_006723787.1:c.1148+39_1148+40del	XP_006723850.1:n.1148+39_1148+40del
XM_011528807.1:c.1148+39_1148+40del	XP_011527109.1:n.1148+39_1148+40del
XM_011528808.1:c.1148+39_1148+40del	XP_011527110.1:n.1148+39_1148+40del
XM_011528809.1:c.1118+2508_1118+2509del	XP_011527111.1:n.1118+2508_1118+2509del
XM_011528810.1:c.1148+39_1148+40del	XP_011527112.1:n.1148+39_1148+40del
XM_011528811.1:c.1118+2508_1118+2509del	XP_011527113.1:n.1118+2508_1118+2509del
XM_011528812.1:c.1148+39_1148+40del	XP_011527114.1:n.1148+39_1148+40del
XM_011528813.1:c.1022+39_1022+40del	XP_011527115.1:n.1022+39_1022+40del
XM_011528814.1:c.629+39_629+40del	XP_011527116.1:n.629+39_629+40del
XM_011528815.1:c.1148+39_1148+40del	XP_011527117.1:n.1148+39_1148+40del
NM_004518.5:c.1118+2508_1118+2509del	NP_004509.2:n.1118+2508_1118+2509del
NM_172106.2:c.1148+39_1148+40del	NP_742104.1:n.1148+39_1148+40del
NM_172107.3:c.1148+39_1148+40del	NP_742105.1:n.1148+39_1148+40del
NM_172108.4:c.1148+39_1148+40del	NP_742106.1:n.1148+39_1148+40del
XM_011528810.2:c.1148+39_1148+40del	XP_011527112.1:n.1148+39_1148+40del
XM_011528811.2:c.1118+2508_1118+2509del	XP_011527113.1:n.1118+2508_1118+2509del
XM_017027841.2:c.1148+39_1148+40del	XP_016883330.1:n.1148+39_1148+40del
XM_017027842.2:c.1148+39_1148+40del	XP_016883331.1:n.1148+39_1148+40del
XM_017027843.1:c.1079+39_1079+40del	XP_016883332.1:n.1079+39_1079+40del
XM_017027844.2:c.1148+39_1148+40del	XP_016883333.1:n.1148+39_1148+40del
NM_004518.6:c.1118+2508_1118+2509del	NP_004509.2:n.1118+2508_1118+2509del
NM_172106.3:c.1148+39_1148+40del	NP_742104.1:n.1148+39_1148+40del
NM_172107.4:c.1148+39_1148+40del MANE Select	NP_742105.1:n.1148+39_1148+40del
NM_172108.5:c.1148+39_1148+40del	NP_742106.1:n.1148+39_1148+40del
NM_001382235.1:c.1148+39_1148+40del	NP_001369164.1:n.1148+39_1148+40del