Canonical Allele Identifier: CA409639123

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2145487852
• gnomAD v3: 20-63407224-A-C
• gnomAD v4: 20-63407224-A-C
• MyVariant Identifiers: chr20:g.62038577A>C (hg19) ; chr20:g.63407224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407224A>C , CM000682.2:g.63407224A>C	GRCh38
NC_000020.10:g.62038577A>C , CM000682.1:g.62038577A>C	GRCh37
NC_000020.9:g.61509021A>C	NCBI36
NG_009004.1:g.70417T>G
NG_009004.2:g.70417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2093T>G	ENSP00000516702.1:p.Val698Gly
ENST00000359125.7:c.2039T>G MANE Select	ENSP00000352035.2:p.Val680Gly
ENST00000637193.1:c.1436T>G	ENSP00000490734.1:p.Val479Gly
ENST00000344462.8:c.1946T>G	ENSP00000339611.4:p.Val649Gly
ENST00000357249.6:c.1607T>G	ENSP00000349789.3:p.Val536Gly
ENST00000359125.6:c.2039T>G	ENSP00000352035.2:p.Val680Gly
ENST00000360480.7:c.1955T>G	ENSP00000353668.3:p.Val652Gly
ENST00000370224.5:c.2063T>G	ENSP00000359244.2:p.Val688Gly
ENST00000625514.2:c.2027T>G	ENSP00000486040.1:p.Val676Gly
ENST00000626839.2:c.1985T>G	ENSP00000486706.1:p.Val662Gly
ENST00000629241.2:c.1955T>G	ENSP00000487142.1:p.Val652Gly
ENST00000629676.2:c.1679+6226T>G	ENSP00000486194.1:n.1679+6226T>G
NM_004518.4:c.1955T>G	NP_004509.2:p.Val652Gly
NM_172106.1:c.1985T>G	NP_742104.1:p.Val662Gly
NM_172107.2:c.2039T>G	NP_742105.1:p.Val680Gly
NM_172108.3:c.1946T>G	NP_742106.1:p.Val649Gly
XM_006723787.1:c.2081T>G	XP_006723850.1:p.Val694Gly
XM_011528807.1:c.2147T>G	XP_011527109.1:p.Val716Gly
XM_011528808.1:c.2144T>G	XP_011527110.1:p.Val715Gly
XM_011528809.1:c.2117T>G	XP_011527111.1:p.Val706Gly
XM_011528810.1:c.2093T>G	XP_011527112.1:p.Val698Gly
XM_011528811.1:c.2063T>G	XP_011527113.1:p.Val688Gly
XM_011528812.1:c.2036T>G	XP_011527114.1:p.Val679Gly
XM_011528813.1:c.2021T>G	XP_011527115.1:p.Val674Gly
XM_011528814.1:c.1628T>G	XP_011527116.1:p.Val543Gly
NM_004518.5:c.1955T>G	NP_004509.2:p.Val652Gly
NM_172106.2:c.1985T>G	NP_742104.1:p.Val662Gly
NM_172107.3:c.2039T>G	NP_742105.1:p.Val680Gly
NM_172108.4:c.1946T>G	NP_742106.1:p.Val649Gly
XM_011528810.2:c.2093T>G	XP_011527112.1:p.Val698Gly
XM_011528811.2:c.2063T>G	XP_011527113.1:p.Val688Gly
XM_017027841.2:c.2090T>G	XP_016883330.1:p.Val697Gly
XM_017027842.2:c.2027T>G	XP_016883331.1:p.Val676Gly
XM_017027843.1:c.2024T>G	XP_016883332.1:p.Val675Gly
XM_017027844.2:c.1982T>G	XP_016883333.1:p.Val661Gly
XM_017027845.1:c.1055T>G	XP_016883334.1:p.Val352Gly
NM_004518.6:c.1955T>G	NP_004509.2:p.Val652Gly
NM_172106.3:c.1985T>G	NP_742104.1:p.Val662Gly
NM_172107.4:c.2039T>G MANE Select	NP_742105.1:p.Val680Gly
NM_172108.5:c.1946T>G	NP_742106.1:p.Val649Gly
NM_001382235.1:c.2093T>G	NP_001369164.1:p.Val698Gly