Canonical Allele Identifier: CA2653800313

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414837-CAGTAGCGTGGCCACCACATCCATCCCCGGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414840_63414870del , CM000682.2:g.63414840_63414870del	GRCh38
NC_000020.10:g.62046193_62046223del , CM000682.1:g.62046193_62046223del	GRCh37
NC_000020.9:g.61516637_61516667del	NCBI36
NG_009004.1:g.62773_62803del
NG_009004.2:g.62773_62803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1471+35_1471+65del	ENSP00000516702.1:n.1471+35_1471+65del
ENST00000359125.7:c.1525+35_1525+65del MANE Select	ENSP00000352035.2:n.1525+35_1525+65del
ENST00000637193.1:c.922+35_922+65del	ENSP00000490734.1:n.922+35_922+65del
ENST00000344462.8:c.1435+35_1435+65del	ENSP00000339611.4:n.1435+35_1435+65del
ENST00000357249.6:c.1093+35_1093+65del	ENSP00000349789.3:n.1093+35_1093+65del
ENST00000359125.6:c.1525+35_1525+65del	ENSP00000352035.2:n.1525+35_1525+65del
ENST00000360480.7:c.1441+35_1441+65del	ENSP00000353668.3:n.1441+35_1441+65del
ENST00000370224.5:c.1441+35_1441+65del	ENSP00000359244.2:n.1441+35_1441+65del
ENST00000625514.2:c.1405+35_1405+65del	ENSP00000486040.1:n.1405+35_1405+65del
ENST00000626839.2:c.1471+35_1471+65del	ENSP00000486706.1:n.1471+35_1471+65del
ENST00000627221.2:c.585+35_585+65del
ENST00000629241.2:c.1441+35_1441+65del	ENSP00000487142.1:n.1441+35_1441+65del
ENST00000629318.1:c.133+35_133+65del	ENSP00000487384.1:n.133+35_133+65del
ENST00000629676.2:c.1441+35_1441+65del	ENSP00000486194.1:n.1441+35_1441+65del
NM_004518.4:c.1441+35_1441+65del	NP_004509.2:n.1441+35_1441+65del
NM_172106.1:c.1471+35_1471+65del	NP_742104.1:n.1471+35_1471+65del
NM_172107.2:c.1525+35_1525+65del	NP_742105.1:n.1525+35_1525+65del
NM_172108.3:c.1435+35_1435+65del	NP_742106.1:n.1435+35_1435+65del
XM_006723787.1:c.1525+35_1525+65del	XP_006723850.1:n.1525+35_1525+65del
XM_011528807.1:c.1525+35_1525+65del	XP_011527109.1:n.1525+35_1525+65del
XM_011528808.1:c.1525+35_1525+65del	XP_011527110.1:n.1525+35_1525+65del
XM_011528809.1:c.1495+35_1495+65del	XP_011527111.1:n.1495+35_1495+65del
XM_011528810.1:c.1471+35_1471+65del	XP_011527112.1:n.1471+35_1471+65del
XM_011528811.1:c.1441+35_1441+65del	XP_011527113.1:n.1441+35_1441+65del
XM_011528812.1:c.1525+35_1525+65del	XP_011527114.1:n.1525+35_1525+65del
XM_011528813.1:c.1399+35_1399+65del	XP_011527115.1:n.1399+35_1399+65del
XM_011528814.1:c.1006+35_1006+65del	XP_011527116.1:n.1006+35_1006+65del
XM_011528815.1:c.1525+35_1525+65del	XP_011527117.1:n.1525+35_1525+65del
NM_004518.5:c.1441+35_1441+65del	NP_004509.2:n.1441+35_1441+65del
NM_172106.2:c.1471+35_1471+65del	NP_742104.1:n.1471+35_1471+65del
NM_172107.3:c.1525+35_1525+65del	NP_742105.1:n.1525+35_1525+65del
NM_172108.4:c.1435+35_1435+65del	NP_742106.1:n.1435+35_1435+65del
XM_011528810.2:c.1471+35_1471+65del	XP_011527112.1:n.1471+35_1471+65del
XM_011528811.2:c.1441+35_1441+65del	XP_011527113.1:n.1441+35_1441+65del
XM_017027841.2:c.1471+35_1471+65del	XP_016883330.1:n.1471+35_1471+65del
XM_017027842.2:c.1471+35_1471+65del	XP_016883331.1:n.1471+35_1471+65del
XM_017027843.1:c.1402+35_1402+65del	XP_016883332.1:n.1402+35_1402+65del
XM_017027844.2:c.1471+35_1471+65del	XP_016883333.1:n.1471+35_1471+65del
XM_017027845.1:c.433+35_433+65del	XP_016883334.1:n.433+35_433+65del
NM_004518.6:c.1441+35_1441+65del	NP_004509.2:n.1441+35_1441+65del
NM_172106.3:c.1471+35_1471+65del	NP_742104.1:n.1471+35_1471+65del
NM_172107.4:c.1525+35_1525+65del MANE Select	NP_742105.1:n.1525+35_1525+65del
NM_172108.5:c.1435+35_1435+65del	NP_742106.1:n.1435+35_1435+65del
NM_001382235.1:c.1471+35_1471+65del	NP_001369164.1:n.1471+35_1471+65del