Canonical Allele Identifier: CA409638162

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 3065598
• ClinVar RCV Id: RCV003990675
• MyVariant Identifiers: chr20:g.62038356C>G (hg19) ; chr20:g.63407003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407003C>G , CM000682.2:g.63407003C>G	GRCh38
NC_000020.10:g.62038356C>G , CM000682.1:g.62038356C>G	GRCh37
NC_000020.9:g.61508800C>G	NCBI36
NG_009004.1:g.70638G>C
NG_009004.2:g.70638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2314G>C	ENSP00000516702.1:p.Ala772Pro
ENST00000359125.7:c.2260G>C MANE Select	ENSP00000352035.2:p.Ala754Pro
ENST00000637193.1:c.1657G>C	ENSP00000490734.1:p.Ala553Pro
ENST00000344462.8:c.2167G>C	ENSP00000339611.4:p.Ala723Pro
ENST00000357249.6:c.1828G>C	ENSP00000349789.3:p.Ala610Pro
ENST00000359125.6:c.2260G>C	ENSP00000352035.2:p.Ala754Pro
ENST00000360480.7:c.2176G>C	ENSP00000353668.3:p.Ala726Pro
ENST00000370224.5:c.2241+43G>C	ENSP00000359244.2:n.2241+43G>C
ENST00000625514.2:c.2205+43G>C	ENSP00000486040.1:n.2205+43G>C
ENST00000626839.2:c.2206G>C	ENSP00000486706.1:p.Ala736Pro
ENST00000629241.2:c.2133+43G>C	ENSP00000487142.1:n.2133+43G>C
ENST00000629676.2:c.1680-6160G>C	ENSP00000486194.1:n.1680-6160G>C
NM_004518.4:c.2176G>C	NP_004509.2:p.Ala726Pro
NM_172106.1:c.2206G>C	NP_742104.1:p.Ala736Pro
NM_172107.2:c.2260G>C	NP_742105.1:p.Ala754Pro
NM_172108.3:c.2167G>C	NP_742106.1:p.Ala723Pro
XM_006723787.1:c.2302G>C	XP_006723850.1:p.Ala768Pro
XM_011528807.1:c.2368G>C	XP_011527109.1:p.Ala790Pro
XM_011528808.1:c.2365G>C	XP_011527110.1:p.Ala789Pro
XM_011528809.1:c.2338G>C	XP_011527111.1:p.Ala780Pro
XM_011528810.1:c.2314G>C	XP_011527112.1:p.Ala772Pro
XM_011528811.1:c.2284G>C	XP_011527113.1:p.Ala762Pro
XM_011528812.1:c.2257G>C	XP_011527114.1:p.Ala753Pro
XM_011528813.1:c.2242G>C	XP_011527115.1:p.Ala748Pro
XM_011528814.1:c.1849G>C	XP_011527116.1:p.Ala617Pro
NM_004518.5:c.2176G>C	NP_004509.2:p.Ala726Pro
NM_172106.2:c.2206G>C	NP_742104.1:p.Ala736Pro
NM_172107.3:c.2260G>C	NP_742105.1:p.Ala754Pro
NM_172108.4:c.2167G>C	NP_742106.1:p.Ala723Pro
XM_011528810.2:c.2314G>C	XP_011527112.1:p.Ala772Pro
XM_011528811.2:c.2284G>C	XP_011527113.1:p.Ala762Pro
XM_017027841.2:c.2311G>C	XP_016883330.1:p.Ala771Pro
XM_017027842.2:c.2248G>C	XP_016883331.1:p.Ala750Pro
XM_017027843.1:c.2245G>C	XP_016883332.1:p.Ala749Pro
XM_017027844.2:c.2203G>C	XP_016883333.1:p.Ala735Pro
XM_017027845.1:c.1276G>C	XP_016883334.1:p.Ala426Pro
NM_004518.6:c.2176G>C	NP_004509.2:p.Ala726Pro
NM_172106.3:c.2206G>C	NP_742104.1:p.Ala736Pro
NM_172107.4:c.2260G>C MANE Select	NP_742105.1:p.Ala754Pro
NM_172108.5:c.2167G>C	NP_742106.1:p.Ala723Pro
NM_001382235.1:c.2314G>C	NP_001369164.1:p.Ala772Pro