Canonical Allele Identifier: CA2739277255
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2856379
ClinVar RCV Id: RCV003754821

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63414917_63415288delinsT , CM000682.2:g.63414917_63415288delinsT GRCh38
NC_000020.10:g.62046270_62046641delinsT , CM000682.1:g.62046270_62046641delinsT GRCh37
NC_000020.9:g.61516714_61517085delinsT NCBI36
NG_009004.1:g.62353_62724delinsA
NG_009004.2:g.62353_62724delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1248-162_1457delinsA
ENST00000359125.7:c.1302-162_1511delinsA
ENST00000637193.1:c.699-162_908delinsA
ENST00000344462.8:c.1248-198_1421delinsA
ENST00000357249.6:c.906-198_1079delinsA
ENST00000359125.6:c.1302-162_1511delinsA
ENST00000360480.7:c.1218-162_1427delinsA
ENST00000370224.5:c.1218-162_1427delinsA
ENST00000625514.2:c.1218-198_1391delinsA
ENST00000626839.2:c.1248-162_1457delinsA
ENST00000627221.2:c.362-162_571delinsA
ENST00000629241.2:c.1218-162_1427delinsA
ENST00000629676.2:c.1218-162_1427delinsA
NM_004518.4:c.1218-162_1427delinsA
NM_172106.1:c.1248-162_1457delinsA
NM_172107.2:c.1302-162_1511delinsA
NM_172108.3:c.1248-198_1421delinsA
XM_006723787.1:c.1302-162_1511delinsA
XM_011528807.1:c.1302-162_1511delinsA
XM_011528808.1:c.1302-162_1511delinsA
XM_011528809.1:c.1272-162_1481delinsA
XM_011528810.1:c.1248-162_1457delinsA
XM_011528811.1:c.1218-162_1427delinsA
XM_011528812.1:c.1302-162_1511delinsA
XM_011528813.1:c.1176-162_1385delinsA
XM_011528814.1:c.783-162_992delinsA
XM_011528815.1:c.1302-162_1511delinsA
NM_004518.5:c.1218-162_1427delinsA
NM_172106.2:c.1248-162_1457delinsA
NM_172107.3:c.1302-162_1511delinsA
NM_172108.4:c.1248-198_1421delinsA
XM_011528810.2:c.1248-162_1457delinsA
XM_011528811.2:c.1218-162_1427delinsA
XM_017027841.2:c.1248-162_1457delinsA
XM_017027842.2:c.1248-162_1457delinsA
XM_017027843.1:c.1179-162_1388delinsA
XM_017027844.2:c.1248-162_1457delinsA
XM_017027845.1:c.210-162_419delinsA
NM_004518.6:c.1218-162_1427delinsA
NM_172106.3:c.1248-162_1457delinsA
NM_172107.4:c.1302-162_1511delinsA
NM_172108.5:c.1248-198_1421delinsA
NM_001382235.1:c.1248-162_1457delinsA