Canonical Allele Identifier: CA2653811953
Gene: KCNQ2 HGNC NCBI

Linked Data

gnomAD v4: 20-63445726-G-GCCCTGTCTCAGCTGGGAGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445734_63445735insCAGCTGGGAGACCCTGTCT , CM000682.2:g.63445734_63445735insCAGCTGGGAGACCCTGTCT GRCh38
NC_000020.10:g.62077087_62077088insCAGCTGGGAGACCCTGTCT , CM000682.1:g.62077087_62077088insCAGCTGGGAGACCCTGTCT GRCh37
NC_000020.9:g.61547531_61547532insCAGCTGGGAGACCCTGTCT NCBI36
NG_009004.1:g.31914_31915insTCTCCCAGCTGAGACAGGG
NG_009004.2:g.31914_31915insTCTCCCAGCTGAGACAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000516702.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000344425.8:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000345523.5:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000359125.7:c.388-363_388-362insTCTCCCAGCTGAGACAGGG MANE Select ENSP00000352035.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000636255.1:n.126-363_126-362insTCTCCCAGCTGAGACAGGG
ENST00000636846.1:n.96-363_96-362insTCTCCCAGCTGAGACAGGG
ENST00000637193.1:c.-132-363_-132-362insTCTCCCAGCTGAGACAGGG ENSP00000490734.1:n.-132-363_-132-362insTCTCCCAGCTGAGACAGGG
ENST00000637704.1:n.23-363_23-362insTCTCCCAGCTGAGACAGGG
ENST00000344425.7:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000345523.5:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000344462.8:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000339611.4:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000357249.6:c.46-363_46-362insTCTCCCAGCTGAGACAGGG ENSP00000349789.3:n.46-363_46-362insTCTCCCAGCTGAGACAGGG
ENST00000359125.6:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000352035.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000360480.7:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000353668.3:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000370221.3:n.514-363_514-362insTCTCCCAGCTGAGACAGGG
ENST00000370224.5:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000359244.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000625514.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000486040.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000626313.1:n.230-363_230-362insTCTCCCAGCTGAGACAGGG
ENST00000626839.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000486706.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000629241.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000487142.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
ENST00000629676.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG ENSP00000486194.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_004518.4:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_004509.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172106.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742104.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172107.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742105.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172108.3:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742106.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172109.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742107.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_006723787.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_006723850.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528807.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527109.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528808.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527110.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528809.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527111.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528810.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527112.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528811.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527113.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528812.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527114.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528813.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527115.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528814.1:c.-132-363_-132-362insTCTCCCAGCTGAGACAGGG XP_011527116.1:n.-132-363_-132-362insTCTCCCAGCTGAGACAGGG
XM_011528815.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527117.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528816.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527118.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_004518.5:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_004509.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172106.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742104.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172107.3:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742105.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172108.4:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742106.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172109.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742107.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528810.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527112.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_011528811.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_011527113.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_017027841.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_016883330.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_017027842.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_016883331.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
XM_017027843.1:c.319-363_319-362insTCTCCCAGCTGAGACAGGG XP_016883332.1:n.319-363_319-362insTCTCCCAGCTGAGACAGGG
XM_017027844.2:c.388-363_388-362insTCTCCCAGCTGAGACAGGG XP_016883333.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_004518.6:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_004509.2:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172106.3:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742104.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172107.4:c.388-363_388-362insTCTCCCAGCTGAGACAGGG MANE Select NP_742105.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172108.5:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742106.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_172109.3:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_742107.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
NM_001382235.1:c.388-363_388-362insTCTCCCAGCTGAGACAGGG NP_001369164.1:n.388-363_388-362insTCTCCCAGCTGAGACAGGG
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