Canonical Allele Identifier: CA9958181

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1130255
• ClinVar RCV Id: RCV001463715
• dbSNP Id: rs530636866
• ExAC: 20:62038639 A / G
• gnomAD v2: 20-62038639-A-G
• gnomAD v3: 20-63407286-A-G
• gnomAD v4: 20-63407286-A-G
• MyVariant Identifiers: chr20:g.62038639A>G (hg19) ; chr20:g.63407286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407286A>G , CM000682.2:g.63407286A>G	GRCh38
NC_000020.10:g.62038639A>G , CM000682.1:g.62038639A>G	GRCh37
NC_000020.9:g.61509083A>G	NCBI36
NG_009004.1:g.70355T>C
NG_009004.2:g.70355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2031T>C	ENSP00000516702.1:p.Phe677=
ENST00000359125.7:c.1977T>C MANE Select	ENSP00000352035.2:p.Phe659=
ENST00000637193.1:c.1374T>C	ENSP00000490734.1:p.Phe458=
ENST00000344462.8:c.1884T>C	ENSP00000339611.4:p.Phe628=
ENST00000357249.6:c.1545T>C	ENSP00000349789.3:p.Phe515=
ENST00000359125.6:c.1977T>C	ENSP00000352035.2:p.Phe659=
ENST00000360480.7:c.1893T>C	ENSP00000353668.3:p.Phe631=
ENST00000370224.5:c.2001T>C	ENSP00000359244.2:p.Phe667=
ENST00000625514.2:c.1965T>C	ENSP00000486040.1:p.Phe655=
ENST00000626839.2:c.1923T>C	ENSP00000486706.1:p.Phe641=
ENST00000629241.2:c.1893T>C	ENSP00000487142.1:p.Phe631=
ENST00000629676.2:c.1679+6164T>C	ENSP00000486194.1:n.1679+6164T>C
NM_004518.4:c.1893T>C	NP_004509.2:p.Phe631=
NM_172106.1:c.1923T>C	NP_742104.1:p.Phe641=
NM_172107.2:c.1977T>C	NP_742105.1:p.Phe659=
NM_172108.3:c.1884T>C	NP_742106.1:p.Phe628=
XM_006723787.1:c.2019T>C	XP_006723850.1:p.Phe673=
XM_011528807.1:c.2085T>C	XP_011527109.1:p.Phe695=
XM_011528808.1:c.2082T>C	XP_011527110.1:p.Phe694=
XM_011528809.1:c.2055T>C	XP_011527111.1:p.Phe685=
XM_011528810.1:c.2031T>C	XP_011527112.1:p.Phe677=
XM_011528811.1:c.2001T>C	XP_011527113.1:p.Phe667=
XM_011528812.1:c.1974T>C	XP_011527114.1:p.Phe658=
XM_011528813.1:c.1959T>C	XP_011527115.1:p.Phe653=
XM_011528814.1:c.1566T>C	XP_011527116.1:p.Phe522=
NM_004518.5:c.1893T>C	NP_004509.2:p.Phe631=
NM_172106.2:c.1923T>C	NP_742104.1:p.Phe641=
NM_172107.3:c.1977T>C	NP_742105.1:p.Phe659=
NM_172108.4:c.1884T>C	NP_742106.1:p.Phe628=
XM_011528810.2:c.2031T>C	XP_011527112.1:p.Phe677=
XM_011528811.2:c.2001T>C	XP_011527113.1:p.Phe667=
XM_017027841.2:c.2028T>C	XP_016883330.1:p.Phe676=
XM_017027842.2:c.1965T>C	XP_016883331.1:p.Phe655=
XM_017027843.1:c.1962T>C	XP_016883332.1:p.Phe654=
XM_017027844.2:c.1920T>C	XP_016883333.1:p.Phe640=
XM_017027845.1:c.993T>C	XP_016883334.1:p.Phe331=
NM_004518.6:c.1893T>C	NP_004509.2:p.Phe631=
NM_172106.3:c.1923T>C	NP_742104.1:p.Phe641=
NM_172107.4:c.1977T>C MANE Select	NP_742105.1:p.Phe659=
NM_172108.5:c.1884T>C	NP_742106.1:p.Phe628=
NM_001382235.1:c.2031T>C	NP_001369164.1:p.Phe677=