Canonical Allele Identifier: CA2499225807

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1165903
• ClinVar RCV Id: RCV001513464
• dbSNP Id: rs2145790004
• gnomAD v4: 20-63446839-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63446844del , CM000682.2:g.63446844del	GRCh38
NC_000020.10:g.62078197del , CM000682.1:g.62078197del	GRCh37
NC_000020.9:g.61548641del	NCBI36
NG_009004.1:g.30801del
NG_009004.2:g.30801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.297-3del	ENSP00000516702.1:n.297-3del
ENST00000344425.8:c.297-3del	ENSP00000345523.5:n.297-3del
ENST00000359125.7:c.297-3del MANE Select	ENSP00000352035.2:n.297-3del
ENST00000636042.1:n.77-3del
ENST00000636065.1:n.83-3del
ENST00000636255.1:n.35-3del
ENST00000636591.1:n.73-3del
ENST00000636623.1:n.58-3del
ENST00000636959.1:n.89-3del
ENST00000637133.1:n.70-3del
ENST00000637193.1:c.-223-3del	ENSP00000490734.1:n.-223-3del
ENST00000637772.1:n.30-3del
ENST00000637803.1:n.95-3del
ENST00000344425.7:c.297-3del	ENSP00000345523.5:n.297-3del
ENST00000344462.8:c.297-3del	ENSP00000339611.4:n.297-3del
ENST00000359125.6:c.297-3del	ENSP00000352035.2:n.297-3del
ENST00000360480.7:c.297-3del	ENSP00000353668.3:n.297-3del
ENST00000370221.3:n.423-3del
ENST00000370224.5:c.297-3del	ENSP00000359244.2:n.297-3del
ENST00000625514.2:c.297-3del	ENSP00000486040.1:n.297-3del
ENST00000626313.1:n.139-3del
ENST00000626839.2:c.297-3del	ENSP00000486706.1:n.297-3del
ENST00000629241.2:c.297-3del	ENSP00000487142.1:n.297-3del
ENST00000629676.2:c.297-3del	ENSP00000486194.1:n.297-3del
NM_004518.4:c.297-3del	NP_004509.2:n.297-3del
NM_172106.1:c.297-3del	NP_742104.1:n.297-3del
NM_172107.2:c.297-3del	NP_742105.1:n.297-3del
NM_172108.3:c.297-3del	NP_742106.1:n.297-3del
NM_172109.1:c.297-3del	NP_742107.1:n.297-3del
XM_006723787.1:c.297-3del	XP_006723850.1:n.297-3del
XM_011528807.1:c.297-3del	XP_011527109.1:n.297-3del
XM_011528808.1:c.297-3del	XP_011527110.1:n.297-3del
XM_011528809.1:c.297-3del	XP_011527111.1:n.297-3del
XM_011528810.1:c.297-3del	XP_011527112.1:n.297-3del
XM_011528811.1:c.297-3del	XP_011527113.1:n.297-3del
XM_011528812.1:c.297-3del	XP_011527114.1:n.297-3del
XM_011528813.1:c.297-3del	XP_011527115.1:n.297-3del
XM_011528815.1:c.297-3del	XP_011527117.1:n.297-3del
XM_011528816.1:c.297-3del	XP_011527118.1:n.297-3del
NM_004518.5:c.297-3del	NP_004509.2:n.297-3del
NM_172106.2:c.297-3del	NP_742104.1:n.297-3del
NM_172107.3:c.297-3del	NP_742105.1:n.297-3del
NM_172108.4:c.297-3del	NP_742106.1:n.297-3del
NM_172109.2:c.297-3del	NP_742107.1:n.297-3del
XM_011528810.2:c.297-3del	XP_011527112.1:n.297-3del
XM_011528811.2:c.297-3del	XP_011527113.1:n.297-3del
XM_017027841.2:c.297-3del	XP_016883330.1:n.297-3del
XM_017027842.2:c.297-3del	XP_016883331.1:n.297-3del
XM_017027843.1:c.228-3del	XP_016883332.1:n.228-3del
XM_017027844.2:c.297-3del	XP_016883333.1:n.297-3del
NM_004518.6:c.297-3del	NP_004509.2:n.297-3del
NM_172106.3:c.297-3del	NP_742104.1:n.297-3del
NM_172107.4:c.297-3del MANE Select	NP_742105.1:n.297-3del
NM_172108.5:c.297-3del	NP_742106.1:n.297-3del
NM_172109.3:c.297-3del	NP_742107.1:n.297-3del
NM_001382235.1:c.297-3del	NP_001369164.1:n.297-3del