Canonical Allele Identifier: CA2653803615

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406496-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406497_63406498del , CM000682.2:g.63406497_63406498del	GRCh38
NC_000020.10:g.62037850_62037851del , CM000682.1:g.62037850_62037851del	GRCh37
NC_000020.9:g.61508294_61508295del	NCBI36
NG_009004.1:g.71143_71144del
NG_009004.2:g.71143_71144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.*146_*147del	ENSP00000516702.1:n.*146_*147del
ENST00000359125.7:c.*146_*147del MANE Select	ENSP00000352035.2:n.*146_*147del
ENST00000637193.1:c.*146_*147del	ENSP00000490734.1:n.*146_*147del
ENST00000344462.8:c.*146_*147del	ENSP00000339611.4:n.*146_*147del
ENST00000357249.6:c.2333_2334del	ENSP00000349789.3:n.2333_2334del
ENST00000359125.6:c.*146_*147del	ENSP00000352035.2:n.*146_*147del
ENST00000360480.7:c.*146_*147del	ENSP00000353668.3:n.*146_*147del
ENST00000370224.5:c.2241+548_2241+549del	ENSP00000359244.2:n.2241+548_2241+549del
ENST00000625514.2:c.2205+548_2205+549del	ENSP00000486040.1:n.2205+548_2205+549del
ENST00000626839.2:c.*146_*147del	ENSP00000486706.1:n.*146_*147del
ENST00000629241.2:c.2133+548_2133+549del	ENSP00000487142.1:n.2133+548_2133+549del
ENST00000629676.2:c.1680-5655_1680-5654del	ENSP00000486194.1:n.1680-5655_1680-5654del
NM_004518.4:c.*146_*147del	NP_004509.2:n.*146_*147del
NM_172106.1:c.*146_*147del	NP_742104.1:n.*146_*147del
NM_172107.2:c.*146_*147del	NP_742105.1:n.*146_*147del
NM_172108.3:c.*146_*147del	NP_742106.1:n.*146_*147del
XM_006723787.1:c.*146_*147del	XP_006723850.1:n.*146_*147del
XM_011528807.1:c.*146_*147del	XP_011527109.1:n.*146_*147del
XM_011528808.1:c.*146_*147del	XP_011527110.1:n.*146_*147del
XM_011528809.1:c.*146_*147del	XP_011527111.1:n.*146_*147del
XM_011528810.1:c.*146_*147del	XP_011527112.1:n.*146_*147del
XM_011528811.1:c.*146_*147del	XP_011527113.1:n.*146_*147del
XM_011528812.1:c.*146_*147del	XP_011527114.1:n.*146_*147del
XM_011528813.1:c.*146_*147del	XP_011527115.1:n.*146_*147del
XM_011528814.1:c.*146_*147del	XP_011527116.1:n.*146_*147del
NM_004518.5:c.*146_*147del	NP_004509.2:n.*146_*147del
NM_172106.2:c.*146_*147del	NP_742104.1:n.*146_*147del
NM_172107.3:c.*146_*147del	NP_742105.1:n.*146_*147del
NM_172108.4:c.*146_*147del	NP_742106.1:n.*146_*147del
XM_011528810.2:c.*146_*147del	XP_011527112.1:n.*146_*147del
XM_011528811.2:c.*146_*147del	XP_011527113.1:n.*146_*147del
XM_017027841.2:c.*146_*147del	XP_016883330.1:n.*146_*147del
XM_017027842.2:c.*146_*147del	XP_016883331.1:n.*146_*147del
XM_017027843.1:c.*146_*147del	XP_016883332.1:n.*146_*147del
XM_017027844.2:c.*146_*147del	XP_016883333.1:n.*146_*147del
XM_017027845.1:c.*146_*147del	XP_016883334.1:n.*146_*147del
NM_004518.6:c.*146_*147del	NP_004509.2:n.*146_*147del
NM_172106.3:c.*146_*147del	NP_742104.1:n.*146_*147del
NM_172107.4:c.*146_*147del MANE Select	NP_742105.1:n.*146_*147del
NM_172108.5:c.*146_*147del	NP_742106.1:n.*146_*147del
NM_001382235.1:c.*146_*147del	NP_001369164.1:n.*146_*147del