Canonical Allele Identifier: CA1019277942

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2080235197
• gnomAD v3: 20-63414864-CGGAGAGGATGGACCA-C
• gnomAD v4: 20-63414864-CGGAGAGGATGGACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414875_63414889del , CM000682.2:g.63414875_63414889del	GRCh38
NC_000020.10:g.62046228_62046242del , CM000682.1:g.62046228_62046242del	GRCh37
NC_000020.9:g.61516672_61516686del	NCBI36
NG_009004.1:g.62762_62776del
NG_009004.2:g.62762_62776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1471+24_1471+38del	ENSP00000516702.1:n.1471+24_1471+38del
ENST00000359125.7:c.1525+24_1525+38del MANE Select	ENSP00000352035.2:n.1525+24_1525+38del
ENST00000637193.1:c.922+24_922+38del	ENSP00000490734.1:n.922+24_922+38del
ENST00000344462.8:c.1435+24_1435+38del	ENSP00000339611.4:n.1435+24_1435+38del
ENST00000357249.6:c.1093+24_1093+38del	ENSP00000349789.3:n.1093+24_1093+38del
ENST00000359125.6:c.1525+24_1525+38del	ENSP00000352035.2:n.1525+24_1525+38del
ENST00000360480.7:c.1441+24_1441+38del	ENSP00000353668.3:n.1441+24_1441+38del
ENST00000370224.5:c.1441+24_1441+38del	ENSP00000359244.2:n.1441+24_1441+38del
ENST00000625514.2:c.1405+24_1405+38del	ENSP00000486040.1:n.1405+24_1405+38del
ENST00000626839.2:c.1471+24_1471+38del	ENSP00000486706.1:n.1471+24_1471+38del
ENST00000627221.2:c.585+24_585+38del
ENST00000629241.2:c.1441+24_1441+38del	ENSP00000487142.1:n.1441+24_1441+38del
ENST00000629318.1:c.133+24_133+38del	ENSP00000487384.1:n.133+24_133+38del
ENST00000629676.2:c.1441+24_1441+38del	ENSP00000486194.1:n.1441+24_1441+38del
NM_004518.4:c.1441+24_1441+38del	NP_004509.2:n.1441+24_1441+38del
NM_172106.1:c.1471+24_1471+38del	NP_742104.1:n.1471+24_1471+38del
NM_172107.2:c.1525+24_1525+38del	NP_742105.1:n.1525+24_1525+38del
NM_172108.3:c.1435+24_1435+38del	NP_742106.1:n.1435+24_1435+38del
XM_006723787.1:c.1525+24_1525+38del	XP_006723850.1:n.1525+24_1525+38del
XM_011528807.1:c.1525+24_1525+38del	XP_011527109.1:n.1525+24_1525+38del
XM_011528808.1:c.1525+24_1525+38del	XP_011527110.1:n.1525+24_1525+38del
XM_011528809.1:c.1495+24_1495+38del	XP_011527111.1:n.1495+24_1495+38del
XM_011528810.1:c.1471+24_1471+38del	XP_011527112.1:n.1471+24_1471+38del
XM_011528811.1:c.1441+24_1441+38del	XP_011527113.1:n.1441+24_1441+38del
XM_011528812.1:c.1525+24_1525+38del	XP_011527114.1:n.1525+24_1525+38del
XM_011528813.1:c.1399+24_1399+38del	XP_011527115.1:n.1399+24_1399+38del
XM_011528814.1:c.1006+24_1006+38del	XP_011527116.1:n.1006+24_1006+38del
XM_011528815.1:c.1525+24_1525+38del	XP_011527117.1:n.1525+24_1525+38del
NM_004518.5:c.1441+24_1441+38del	NP_004509.2:n.1441+24_1441+38del
NM_172106.2:c.1471+24_1471+38del	NP_742104.1:n.1471+24_1471+38del
NM_172107.3:c.1525+24_1525+38del	NP_742105.1:n.1525+24_1525+38del
NM_172108.4:c.1435+24_1435+38del	NP_742106.1:n.1435+24_1435+38del
XM_011528810.2:c.1471+24_1471+38del	XP_011527112.1:n.1471+24_1471+38del
XM_011528811.2:c.1441+24_1441+38del	XP_011527113.1:n.1441+24_1441+38del
XM_017027841.2:c.1471+24_1471+38del	XP_016883330.1:n.1471+24_1471+38del
XM_017027842.2:c.1471+24_1471+38del	XP_016883331.1:n.1471+24_1471+38del
XM_017027843.1:c.1402+24_1402+38del	XP_016883332.1:n.1402+24_1402+38del
XM_017027844.2:c.1471+24_1471+38del	XP_016883333.1:n.1471+24_1471+38del
XM_017027845.1:c.433+24_433+38del	XP_016883334.1:n.433+24_433+38del
NM_004518.6:c.1441+24_1441+38del	NP_004509.2:n.1441+24_1441+38del
NM_172106.3:c.1471+24_1471+38del	NP_742104.1:n.1471+24_1471+38del
NM_172107.4:c.1525+24_1525+38del MANE Select	NP_742105.1:n.1525+24_1525+38del
NM_172108.5:c.1435+24_1435+38del	NP_742106.1:n.1435+24_1435+38del
NM_001382235.1:c.1471+24_1471+38del	NP_001369164.1:n.1471+24_1471+38del