Canonical Allele Identifier: CA2739277252

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2842291
• ClinVar RCV Id: RCV003754588

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413483_63413487dup , CM000682.2:g.63413483_63413487dup	GRCh38
NC_000020.10:g.62044836_62044840dup , CM000682.1:g.62044836_62044840dup	GRCh37
NC_000020.9:g.61515280_61515284dup	NCBI36
NG_009004.1:g.64155_64159dup
NG_009004.2:g.64155_64159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1673_1677dup	ENSP00000516702.1:p.Met560TrpfsTer14
ENST00000359125.7:c.1727_1731dup MANE Select	ENSP00000352035.2:p.Met578TrpfsTer?
ENST00000637193.1:c.1124_1128dup	ENSP00000490734.1:p.Met377TrpfsTer?
ENST00000344462.8:c.1634_1638dup	ENSP00000339611.4:p.Met547TrpfsTer?
ENST00000357249.6:c.1295_1299dup	ENSP00000349789.3:p.Met434TrpfsTer?
ENST00000359125.6:c.1727_1731dup	ENSP00000352035.2:p.Met578TrpfsTer?
ENST00000360480.7:c.1643_1647dup	ENSP00000353668.3:p.Met550TrpfsTer?
ENST00000370224.5:c.1643_1647dup	ENSP00000359244.2:p.Met550TrpfsTer14
ENST00000625514.2:c.1607_1611dup	ENSP00000486040.1:p.Met538TrpfsTer14
ENST00000626839.2:c.1673_1677dup	ENSP00000486706.1:p.Met560TrpfsTer?
ENST00000629241.2:c.1643_1647dup	ENSP00000487142.1:p.Met550TrpfsTer?
ENST00000629318.1:c.335_339dup	ENSP00000487384.1:p.Met114TrpfsTer?
ENST00000629676.2:c.1643_1647dup	ENSP00000486194.1:p.Met550TrpfsTer?
NM_004518.4:c.1643_1647dup	NP_004509.2:p.Met550TrpfsTer?
NM_172106.1:c.1673_1677dup	NP_742104.1:p.Met560TrpfsTer?
NM_172107.2:c.1727_1731dup	NP_742105.1:p.Met578TrpfsTer?
NM_172108.3:c.1634_1638dup	NP_742106.1:p.Met547TrpfsTer?
XM_006723787.1:c.1727_1731dup	XP_006723850.1:p.Met578TrpfsTer?
XM_011528807.1:c.1727_1731dup	XP_011527109.1:p.Met578TrpfsTer14
XM_011528808.1:c.1724_1728dup	XP_011527110.1:p.Met577TrpfsTer14
XM_011528809.1:c.1697_1701dup	XP_011527111.1:p.Met568TrpfsTer14
XM_011528810.1:c.1673_1677dup	XP_011527112.1:p.Met560TrpfsTer14
XM_011528811.1:c.1643_1647dup	XP_011527113.1:p.Met550TrpfsTer14
XM_011528812.1:c.1724_1728dup	XP_011527114.1:p.Met577TrpfsTer?
XM_011528813.1:c.1601_1605dup	XP_011527115.1:p.Met536TrpfsTer14
XM_011528814.1:c.1208_1212dup	XP_011527116.1:p.Met405TrpfsTer14
XM_011528815.1:c.1727_1731dup	XP_011527117.1:p.Met578TrpfsTer14
NM_004518.5:c.1643_1647dup	NP_004509.2:p.Met550TrpfsTer?
NM_172106.2:c.1673_1677dup	NP_742104.1:p.Met560TrpfsTer?
NM_172107.3:c.1727_1731dup	NP_742105.1:p.Met578TrpfsTer?
NM_172108.4:c.1634_1638dup	NP_742106.1:p.Met547TrpfsTer?
XM_011528810.2:c.1673_1677dup	XP_011527112.1:p.Met560TrpfsTer14
XM_011528811.2:c.1643_1647dup	XP_011527113.1:p.Met550TrpfsTer14
XM_017027841.2:c.1670_1674dup	XP_016883330.1:p.Met559TrpfsTer14
XM_017027842.2:c.1673_1677dup	XP_016883331.1:p.Met560TrpfsTer?
XM_017027843.1:c.1604_1608dup	XP_016883332.1:p.Met537TrpfsTer14
XM_017027844.2:c.1670_1674dup	XP_016883333.1:p.Met559TrpfsTer?
XM_017027845.1:c.635_639dup	XP_016883334.1:p.Met214TrpfsTer14
NM_004518.6:c.1643_1647dup	NP_004509.2:p.Met550TrpfsTer?
NM_172106.3:c.1673_1677dup	NP_742104.1:p.Met560TrpfsTer?
NM_172107.4:c.1727_1731dup MANE Select	NP_742105.1:p.Met578TrpfsTer?
NM_172108.5:c.1634_1638dup	NP_742106.1:p.Met547TrpfsTer?
NM_001382235.1:c.1673_1677dup	NP_001369164.1:p.Met560TrpfsTer14