Canonical Allele Identifier: CA409640261

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63408444-A-C
• MyVariant Identifiers: chr20:g.62039797A>C (hg19) ; chr20:g.63408444A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63408444A>C , CM000682.2:g.63408444A>C	GRCh38
NC_000020.10:g.62039797A>C , CM000682.1:g.62039797A>C	GRCh37
NC_000020.9:g.61510241A>C	NCBI36
NG_009004.1:g.69197T>G
NG_009004.2:g.69197T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1910T>G	ENSP00000516702.1:p.Met637Arg
ENST00000359125.7:c.1856T>G MANE Select	ENSP00000352035.2:p.Met619Arg
ENST00000637063.1:n.41T>G
ENST00000637193.1:c.1253T>G	ENSP00000490734.1:p.Met418Arg
ENST00000637656.1:n.12T>G
ENST00000344462.8:c.1763T>G	ENSP00000339611.4:p.Met588Arg
ENST00000357249.6:c.1424T>G	ENSP00000349789.3:p.Met475Arg
ENST00000359125.6:c.1856T>G	ENSP00000352035.2:p.Met619Arg
ENST00000360480.7:c.1772T>G	ENSP00000353668.3:p.Met591Arg
ENST00000370224.5:c.1880T>G	ENSP00000359244.2:p.Met627Arg
ENST00000625514.2:c.1844T>G	ENSP00000486040.1:p.Met615Arg
ENST00000626839.2:c.1802T>G	ENSP00000486706.1:p.Met601Arg
ENST00000629241.2:c.1772T>G	ENSP00000487142.1:p.Met591Arg
ENST00000629676.2:c.1679+5006T>G	ENSP00000486194.1:n.1679+5006T>G
NM_004518.4:c.1772T>G	NP_004509.2:p.Met591Arg
NM_172106.1:c.1802T>G	NP_742104.1:p.Met601Arg
NM_172107.2:c.1856T>G	NP_742105.1:p.Met619Arg
NM_172108.3:c.1763T>G	NP_742106.1:p.Met588Arg
XM_006723787.1:c.1898T>G	XP_006723850.1:p.Met633Arg
XM_011528807.1:c.1964T>G	XP_011527109.1:p.Met655Arg
XM_011528808.1:c.1961T>G	XP_011527110.1:p.Met654Arg
XM_011528809.1:c.1934T>G	XP_011527111.1:p.Met645Arg
XM_011528810.1:c.1910T>G	XP_011527112.1:p.Met637Arg
XM_011528811.1:c.1880T>G	XP_011527113.1:p.Met627Arg
XM_011528812.1:c.1853T>G	XP_011527114.1:p.Met618Arg
XM_011528813.1:c.1838T>G	XP_011527115.1:p.Met613Arg
XM_011528814.1:c.1445T>G	XP_011527116.1:p.Met482Arg
XM_011528815.1:c.1964T>G	XP_011527117.1:p.Met655Arg
NM_004518.5:c.1772T>G	NP_004509.2:p.Met591Arg
NM_172106.2:c.1802T>G	NP_742104.1:p.Met601Arg
NM_172107.3:c.1856T>G	NP_742105.1:p.Met619Arg
NM_172108.4:c.1763T>G	NP_742106.1:p.Met588Arg
XM_011528810.2:c.1910T>G	XP_011527112.1:p.Met637Arg
XM_011528811.2:c.1880T>G	XP_011527113.1:p.Met627Arg
XM_017027841.2:c.1907T>G	XP_016883330.1:p.Met636Arg
XM_017027842.2:c.1844T>G	XP_016883331.1:p.Met615Arg
XM_017027843.1:c.1841T>G	XP_016883332.1:p.Met614Arg
XM_017027844.2:c.1799T>G	XP_016883333.1:p.Met600Arg
XM_017027845.1:c.872T>G	XP_016883334.1:p.Met291Arg
NM_004518.6:c.1772T>G	NP_004509.2:p.Met591Arg
NM_172106.3:c.1802T>G	NP_742104.1:p.Met601Arg
NM_172107.4:c.1856T>G MANE Select	NP_742105.1:p.Met619Arg
NM_172108.5:c.1763T>G	NP_742106.1:p.Met588Arg
NM_001382235.1:c.1910T>G	NP_001369164.1:p.Met637Arg