Canonical Allele Identifier: CA409638900

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1498902
• ClinVar RCV Id: RCV001999419
• dbSNP Id: rs2145486666
• gnomAD v4: 20-63407131-T-G
• MyVariant Identifiers: chr20:g.62038484T>G (hg19) ; chr20:g.63407131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407131T>G , CM000682.2:g.63407131T>G	GRCh38
NC_000020.10:g.62038484T>G , CM000682.1:g.62038484T>G	GRCh37
NC_000020.9:g.61508928T>G	NCBI36
NG_009004.1:g.70510A>C
NG_009004.2:g.70510A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2186A>C	ENSP00000516702.1:p.Gln729Pro
ENST00000359125.7:c.2132A>C MANE Select	ENSP00000352035.2:p.Gln711Pro
ENST00000637193.1:c.1529A>C	ENSP00000490734.1:p.Gln510Pro
ENST00000344462.8:c.2039A>C	ENSP00000339611.4:p.Gln680Pro
ENST00000357249.6:c.1700A>C	ENSP00000349789.3:p.Gln567Pro
ENST00000359125.6:c.2132A>C	ENSP00000352035.2:p.Gln711Pro
ENST00000360480.7:c.2048A>C	ENSP00000353668.3:p.Gln683Pro
ENST00000370224.5:c.2156A>C	ENSP00000359244.2:p.Gln719Pro
ENST00000625514.2:c.2120A>C	ENSP00000486040.1:p.Gln707Pro
ENST00000626839.2:c.2078A>C	ENSP00000486706.1:p.Gln693Pro
ENST00000629241.2:c.2048A>C	ENSP00000487142.1:p.Gln683Pro
ENST00000629676.2:c.1680-6288A>C	ENSP00000486194.1:n.1680-6288A>C
NM_004518.4:c.2048A>C	NP_004509.2:p.Gln683Pro
NM_172106.1:c.2078A>C	NP_742104.1:p.Gln693Pro
NM_172107.2:c.2132A>C	NP_742105.1:p.Gln711Pro
NM_172108.3:c.2039A>C	NP_742106.1:p.Gln680Pro
XM_006723787.1:c.2174A>C	XP_006723850.1:p.Gln725Pro
XM_011528807.1:c.2240A>C	XP_011527109.1:p.Gln747Pro
XM_011528808.1:c.2237A>C	XP_011527110.1:p.Gln746Pro
XM_011528809.1:c.2210A>C	XP_011527111.1:p.Gln737Pro
XM_011528810.1:c.2186A>C	XP_011527112.1:p.Gln729Pro
XM_011528811.1:c.2156A>C	XP_011527113.1:p.Gln719Pro
XM_011528812.1:c.2129A>C	XP_011527114.1:p.Gln710Pro
XM_011528813.1:c.2114A>C	XP_011527115.1:p.Gln705Pro
XM_011528814.1:c.1721A>C	XP_011527116.1:p.Gln574Pro
NM_004518.5:c.2048A>C	NP_004509.2:p.Gln683Pro
NM_172106.2:c.2078A>C	NP_742104.1:p.Gln693Pro
NM_172107.3:c.2132A>C	NP_742105.1:p.Gln711Pro
NM_172108.4:c.2039A>C	NP_742106.1:p.Gln680Pro
XM_011528810.2:c.2186A>C	XP_011527112.1:p.Gln729Pro
XM_011528811.2:c.2156A>C	XP_011527113.1:p.Gln719Pro
XM_017027841.2:c.2183A>C	XP_016883330.1:p.Gln728Pro
XM_017027842.2:c.2120A>C	XP_016883331.1:p.Gln707Pro
XM_017027843.1:c.2117A>C	XP_016883332.1:p.Gln706Pro
XM_017027844.2:c.2075A>C	XP_016883333.1:p.Gln692Pro
XM_017027845.1:c.1148A>C	XP_016883334.1:p.Gln383Pro
NM_004518.6:c.2048A>C	NP_004509.2:p.Gln683Pro
NM_172106.3:c.2078A>C	NP_742104.1:p.Gln693Pro
NM_172107.4:c.2132A>C MANE Select	NP_742105.1:p.Gln711Pro
NM_172108.5:c.2039A>C	NP_742106.1:p.Gln680Pro
NM_001382235.1:c.2186A>C	NP_001369164.1:p.Gln729Pro