Canonical Allele Identifier: CA1139666800

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 939067
• ClinVar RCV Id: RCV001208395
• dbSNP Id: rs2081191595
• gnomAD v4: 20-63442497-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63442498_63442501del , CM000682.2:g.63442498_63442501del	GRCh38
NC_000020.10:g.62073851_62073854del , CM000682.1:g.62073851_62073854del	GRCh37
NC_000020.9:g.61544295_61544298del	NCBI36
NG_009004.1:g.35140_35143del
NG_009004.2:g.35140_35143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.721_724del	ENSP00000516702.1:p.Leu241ValfsTer?
ENST00000344425.8:c.721_724del	ENSP00000345523.5:p.Leu241ValfsTer?
ENST00000359125.7:c.721_724del MANE Select	ENSP00000352035.2:p.Leu241ValfsTer?
ENST00000636255.1:n.459_462del
ENST00000637193.1:c.202_205del	ENSP00000490734.1:p.Leu68ValfsTer?
ENST00000638073.1:n.101_104del
ENST00000344425.7:c.721_724del	ENSP00000345523.5:p.Leu241ValfsTer?
ENST00000344462.8:c.721_724del	ENSP00000339611.4:p.Leu241ValfsTer?
ENST00000357249.6:c.379_382del	ENSP00000349789.3:p.Leu127ValfsTer?
ENST00000359125.6:c.721_724del	ENSP00000352035.2:p.Leu241ValfsTer?
ENST00000360480.7:c.721_724del	ENSP00000353668.3:p.Leu241ValfsTer?
ENST00000370221.3:n.847_850del
ENST00000370224.5:c.721_724del	ENSP00000359244.2:p.Leu241ValfsTer?
ENST00000625514.2:c.721_724del	ENSP00000486040.1:p.Leu241ValfsTer?
ENST00000626684.1:c.86_89del
ENST00000626839.2:c.721_724del	ENSP00000486706.1:p.Leu241ValfsTer?
ENST00000629241.2:c.721_724del	ENSP00000487142.1:p.Leu241ValfsTer?
ENST00000629498.2:c.142_145del	ENSP00000486509.1:p.Leu48ValfsTer?
ENST00000629676.2:c.721_724del	ENSP00000486194.1:p.Leu241ValfsTer?
ENST00000630274.2:n.546_549del
NM_004518.4:c.721_724del	NP_004509.2:p.Leu241ValfsTer?
NM_172106.1:c.721_724del	NP_742104.1:p.Leu241ValfsTer?
NM_172107.2:c.721_724del	NP_742105.1:p.Leu241ValfsTer?
NM_172108.3:c.721_724del	NP_742106.1:p.Leu241ValfsTer?
NM_172109.1:c.721_724del	NP_742107.1:p.Leu241ValfsTer?
XM_006723787.1:c.721_724del	XP_006723850.1:p.Leu241ValfsTer?
XM_011528807.1:c.721_724del	XP_011527109.1:p.Leu241ValfsTer?
XM_011528808.1:c.721_724del	XP_011527110.1:p.Leu241ValfsTer?
XM_011528809.1:c.721_724del	XP_011527111.1:p.Leu241ValfsTer?
XM_011528810.1:c.721_724del	XP_011527112.1:p.Leu241ValfsTer?
XM_011528811.1:c.721_724del	XP_011527113.1:p.Leu241ValfsTer?
XM_011528812.1:c.721_724del	XP_011527114.1:p.Leu241ValfsTer?
XM_011528813.1:c.690+2158_690+2161del	XP_011527115.1:n.690+2158_690+2161del
XM_011528814.1:c.202_205del	XP_011527116.1:p.Leu68ValfsTer?
XM_011528815.1:c.721_724del	XP_011527117.1:p.Leu241ValfsTer?
XM_011528816.1:c.721_724del	XP_011527118.1:p.Leu241ValfsTer?
NM_004518.5:c.721_724del	NP_004509.2:p.Leu241ValfsTer?
NM_172106.2:c.721_724del	NP_742104.1:p.Leu241ValfsTer?
NM_172107.3:c.721_724del	NP_742105.1:p.Leu241ValfsTer?
NM_172108.4:c.721_724del	NP_742106.1:p.Leu241ValfsTer?
NM_172109.2:c.721_724del	NP_742107.1:p.Leu241ValfsTer?
XM_011528810.2:c.721_724del	XP_011527112.1:p.Leu241ValfsTer?
XM_011528811.2:c.721_724del	XP_011527113.1:p.Leu241ValfsTer?
XM_017027841.2:c.721_724del	XP_016883330.1:p.Leu241ValfsTer?
XM_017027842.2:c.721_724del	XP_016883331.1:p.Leu241ValfsTer?
XM_017027843.1:c.652_655del	XP_016883332.1:p.Leu218ValfsTer?
XM_017027844.2:c.721_724del	XP_016883333.1:p.Leu241ValfsTer?
NM_004518.6:c.721_724del	NP_004509.2:p.Leu241ValfsTer?
NM_172106.3:c.721_724del	NP_742104.1:p.Leu241ValfsTer?
NM_172107.4:c.721_724del MANE Select	NP_742105.1:p.Leu241ValfsTer?
NM_172108.5:c.721_724del	NP_742106.1:p.Leu241ValfsTer?
NM_172109.3:c.721_724del	NP_742107.1:p.Leu241ValfsTer?
NM_001382235.1:c.721_724del	NP_001369164.1:p.Leu241ValfsTer?