Canonical Allele Identifier: CA315302

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205840
• ClinVar RCV Id: RCV000187828 ; RCV001668348
• dbSNP Id: rs1555854856
• gnomAD v4: 20-63415143-C-CGACAGGCA
• MyVariant Identifiers: chr20:g.62046496_62046497insGACAGGCA (hg19) ; chr20:g.63415143_63415144insGACAGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415148_63415149insGCAGACAG , CM000682.2:g.63415148_63415149insGCAGACAG	GRCh38
NC_000020.10:g.62046501_62046502insGCAGACAG , CM000682.1:g.62046501_62046502insGCAGACAG	GRCh37
NC_000020.9:g.61516945_61516946insGCAGACAG	NCBI36
NG_009004.1:g.62497_62498insTGCCTGTC
NG_009004.2:g.62497_62498insTGCCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-18_1248-17insTGCCTGTC	ENSP00000516702.1:n.1248-18_1248-17insTGCCTGTC
ENST00000359125.7:c.1302-18_1302-17insTGCCTGTC MANE Select	ENSP00000352035.2:n.1302-18_1302-17insTGCCTGTC
ENST00000637193.1:c.699-18_699-17insTGCCTGTC	ENSP00000490734.1:n.699-18_699-17insTGCCTGTC
ENST00000637584.1:n.75-54_75-53insTGCCTGTC
ENST00000344462.8:c.1248-54_1248-53insTGCCTGTC	ENSP00000339611.4:n.1248-54_1248-53insTGCCTGTC
ENST00000357249.6:c.906-54_906-53insTGCCTGTC	ENSP00000349789.3:n.906-54_906-53insTGCCTGTC
ENST00000359125.6:c.1302-18_1302-17insTGCCTGTC	ENSP00000352035.2:n.1302-18_1302-17insTGCCTGTC
ENST00000360480.7:c.1218-18_1218-17insTGCCTGTC	ENSP00000353668.3:n.1218-18_1218-17insTGCCTGTC
ENST00000370224.5:c.1218-18_1218-17insTGCCTGTC	ENSP00000359244.2:n.1218-18_1218-17insTGCCTGTC
ENST00000625514.2:c.1218-54_1218-53insTGCCTGTC	ENSP00000486040.1:n.1218-54_1218-53insTGCCTGTC
ENST00000626839.2:c.1248-18_1248-17insTGCCTGTC	ENSP00000486706.1:n.1248-18_1248-17insTGCCTGTC
ENST00000627221.2:c.362-18_362-17insTGCCTGTC
ENST00000629241.2:c.1218-18_1218-17insTGCCTGTC	ENSP00000487142.1:n.1218-18_1218-17insTGCCTGTC
ENST00000629676.2:c.1218-18_1218-17insTGCCTGTC	ENSP00000486194.1:n.1218-18_1218-17insTGCCTGTC
NM_004518.4:c.1218-18_1218-17insTGCCTGTC	NP_004509.2:n.1218-18_1218-17insTGCCTGTC
NM_172106.1:c.1248-18_1248-17insTGCCTGTC	NP_742104.1:n.1248-18_1248-17insTGCCTGTC
NM_172107.2:c.1302-18_1302-17insTGCCTGTC	NP_742105.1:n.1302-18_1302-17insTGCCTGTC
NM_172108.3:c.1248-54_1248-53insTGCCTGTC	NP_742106.1:n.1248-54_1248-53insTGCCTGTC
XM_006723787.1:c.1302-18_1302-17insTGCCTGTC	XP_006723850.1:n.1302-18_1302-17insTGCCTGTC
XM_011528807.1:c.1302-18_1302-17insTGCCTGTC	XP_011527109.1:n.1302-18_1302-17insTGCCTGTC
XM_011528808.1:c.1302-18_1302-17insTGCCTGTC	XP_011527110.1:n.1302-18_1302-17insTGCCTGTC
XM_011528809.1:c.1272-18_1272-17insTGCCTGTC	XP_011527111.1:n.1272-18_1272-17insTGCCTGTC
XM_011528810.1:c.1248-18_1248-17insTGCCTGTC	XP_011527112.1:n.1248-18_1248-17insTGCCTGTC
XM_011528811.1:c.1218-18_1218-17insTGCCTGTC	XP_011527113.1:n.1218-18_1218-17insTGCCTGTC
XM_011528812.1:c.1302-18_1302-17insTGCCTGTC	XP_011527114.1:n.1302-18_1302-17insTGCCTGTC
XM_011528813.1:c.1176-18_1176-17insTGCCTGTC	XP_011527115.1:n.1176-18_1176-17insTGCCTGTC
XM_011528814.1:c.783-18_783-17insTGCCTGTC	XP_011527116.1:n.783-18_783-17insTGCCTGTC
XM_011528815.1:c.1302-18_1302-17insTGCCTGTC	XP_011527117.1:n.1302-18_1302-17insTGCCTGTC
NM_004518.5:c.1218-18_1218-17insTGCCTGTC	NP_004509.2:n.1218-18_1218-17insTGCCTGTC
NM_172106.2:c.1248-18_1248-17insTGCCTGTC	NP_742104.1:n.1248-18_1248-17insTGCCTGTC
NM_172107.3:c.1302-18_1302-17insTGCCTGTC	NP_742105.1:n.1302-18_1302-17insTGCCTGTC
NM_172108.4:c.1248-54_1248-53insTGCCTGTC	NP_742106.1:n.1248-54_1248-53insTGCCTGTC
XM_011528810.2:c.1248-18_1248-17insTGCCTGTC	XP_011527112.1:n.1248-18_1248-17insTGCCTGTC
XM_011528811.2:c.1218-18_1218-17insTGCCTGTC	XP_011527113.1:n.1218-18_1218-17insTGCCTGTC
XM_017027841.2:c.1248-18_1248-17insTGCCTGTC	XP_016883330.1:n.1248-18_1248-17insTGCCTGTC
XM_017027842.2:c.1248-18_1248-17insTGCCTGTC	XP_016883331.1:n.1248-18_1248-17insTGCCTGTC
XM_017027843.1:c.1179-18_1179-17insTGCCTGTC	XP_016883332.1:n.1179-18_1179-17insTGCCTGTC
XM_017027844.2:c.1248-18_1248-17insTGCCTGTC	XP_016883333.1:n.1248-18_1248-17insTGCCTGTC
XM_017027845.1:c.210-18_210-17insTGCCTGTC	XP_016883334.1:n.210-18_210-17insTGCCTGTC
NM_004518.6:c.1218-18_1218-17insTGCCTGTC	NP_004509.2:n.1218-18_1218-17insTGCCTGTC
NM_172106.3:c.1248-18_1248-17insTGCCTGTC	NP_742104.1:n.1248-18_1248-17insTGCCTGTC
NM_172107.4:c.1302-18_1302-17insTGCCTGTC MANE Select	NP_742105.1:n.1302-18_1302-17insTGCCTGTC
NM_172108.5:c.1248-54_1248-53insTGCCTGTC	NP_742106.1:n.1248-54_1248-53insTGCCTGTC
NM_001382235.1:c.1248-18_1248-17insTGCCTGTC	NP_001369164.1:n.1248-18_1248-17insTGCCTGTC