Canonical Allele Identifier: CA9958394

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1104310
• ClinVar RCV Id: RCV001428335
• dbSNP Id: rs564614151
• ExAC: 20:62045446 G / C
• gnomAD v2: 20-62045446-G-C
• gnomAD v3: 20-63414093-G-C
• gnomAD v4: 20-63414093-G-C
• MyVariant Identifiers: chr20:g.62045446G>C (hg19) ; chr20:g.63414093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414093G>C , CM000682.2:g.63414093G>C	GRCh38
NC_000020.10:g.62045446G>C , CM000682.1:g.62045446G>C	GRCh37
NC_000020.9:g.61515890G>C	NCBI36
NG_009004.1:g.63548C>G
NG_009004.2:g.63548C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1572C>G	ENSP00000516702.1:p.Ala524=
ENST00000359125.7:c.1626C>G MANE Select	ENSP00000352035.2:p.Ala542=
ENST00000637193.1:c.1023C>G	ENSP00000490734.1:p.Ala341=
ENST00000344462.8:c.1533C>G	ENSP00000339611.4:p.Ala511=
ENST00000357249.6:c.1194C>G	ENSP00000349789.3:p.Ala398=
ENST00000359125.6:c.1626C>G	ENSP00000352035.2:p.Ala542=
ENST00000360480.7:c.1542C>G	ENSP00000353668.3:p.Ala514=
ENST00000370224.5:c.1542C>G	ENSP00000359244.2:p.Ala514=
ENST00000625514.2:c.1506C>G	ENSP00000486040.1:p.Ala502=
ENST00000626839.2:c.1572C>G	ENSP00000486706.1:p.Ala524=
ENST00000627221.2:c.683C>G
ENST00000629241.2:c.1542C>G	ENSP00000487142.1:p.Ala514=
ENST00000629318.1:c.234C>G	ENSP00000487384.1:p.Ala78=
ENST00000629676.2:c.1542C>G	ENSP00000486194.1:p.Ala514=
NM_004518.4:c.1542C>G	NP_004509.2:p.Ala514=
NM_172106.1:c.1572C>G	NP_742104.1:p.Ala524=
NM_172107.2:c.1626C>G	NP_742105.1:p.Ala542=
NM_172108.3:c.1533C>G	NP_742106.1:p.Ala511=
XM_006723787.1:c.1626C>G	XP_006723850.1:p.Ala542=
XM_011528807.1:c.1626C>G	XP_011527109.1:p.Ala542=
XM_011528808.1:c.1623C>G	XP_011527110.1:p.Ala541=
XM_011528809.1:c.1596C>G	XP_011527111.1:p.Ala532=
XM_011528810.1:c.1572C>G	XP_011527112.1:p.Ala524=
XM_011528811.1:c.1542C>G	XP_011527113.1:p.Ala514=
XM_011528812.1:c.1623C>G	XP_011527114.1:p.Ala541=
XM_011528813.1:c.1500C>G	XP_011527115.1:p.Ala500=
XM_011528814.1:c.1107C>G	XP_011527116.1:p.Ala369=
XM_011528815.1:c.1626C>G	XP_011527117.1:p.Ala542=
NM_004518.5:c.1542C>G	NP_004509.2:p.Ala514=
NM_172106.2:c.1572C>G	NP_742104.1:p.Ala524=
NM_172107.3:c.1626C>G	NP_742105.1:p.Ala542=
NM_172108.4:c.1533C>G	NP_742106.1:p.Ala511=
XM_011528810.2:c.1572C>G	XP_011527112.1:p.Ala524=
XM_011528811.2:c.1542C>G	XP_011527113.1:p.Ala514=
XM_017027841.2:c.1569C>G	XP_016883330.1:p.Ala523=
XM_017027842.2:c.1572C>G	XP_016883331.1:p.Ala524=
XM_017027843.1:c.1503C>G	XP_016883332.1:p.Ala501=
XM_017027844.2:c.1569C>G	XP_016883333.1:p.Ala523=
XM_017027845.1:c.534C>G	XP_016883334.1:p.Ala178=
NM_004518.6:c.1542C>G	NP_004509.2:p.Ala514=
NM_172106.3:c.1572C>G	NP_742104.1:p.Ala524=
NM_172107.4:c.1626C>G MANE Select	NP_742105.1:p.Ala542=
NM_172108.5:c.1533C>G	NP_742106.1:p.Ala511=
NM_001382235.1:c.1572C>G	NP_001369164.1:p.Ala524=