Canonical Allele Identifier: CA409639029

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1301621747
• gnomAD v2: 20-62038533-A-G
• gnomAD v4: 20-63407180-A-G
• MyVariant Identifiers: chr20:g.62038533A>G (hg19) ; chr20:g.63407180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407180A>G , CM000682.2:g.63407180A>G	GRCh38
NC_000020.10:g.62038533A>G , CM000682.1:g.62038533A>G	GRCh37
NC_000020.9:g.61508977A>G	NCBI36
NG_009004.1:g.70461T>C
NG_009004.2:g.70461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2137T>C	ENSP00000516702.1:p.Ser713Pro
ENST00000359125.7:c.2083T>C MANE Select	ENSP00000352035.2:p.Ser695Pro
ENST00000637193.1:c.1480T>C	ENSP00000490734.1:p.Ser494Pro
ENST00000344462.8:c.1990T>C	ENSP00000339611.4:p.Ser664Pro
ENST00000357249.6:c.1651T>C	ENSP00000349789.3:p.Ser551Pro
ENST00000359125.6:c.2083T>C	ENSP00000352035.2:p.Ser695Pro
ENST00000360480.7:c.1999T>C	ENSP00000353668.3:p.Ser667Pro
ENST00000370224.5:c.2107T>C	ENSP00000359244.2:p.Ser703Pro
ENST00000625514.2:c.2071T>C	ENSP00000486040.1:p.Ser691Pro
ENST00000626839.2:c.2029T>C	ENSP00000486706.1:p.Ser677Pro
ENST00000629241.2:c.1999T>C	ENSP00000487142.1:p.Ser667Pro
ENST00000629676.2:c.1679+6270T>C	ENSP00000486194.1:n.1679+6270T>C
NM_004518.4:c.1999T>C	NP_004509.2:p.Ser667Pro
NM_172106.1:c.2029T>C	NP_742104.1:p.Ser677Pro
NM_172107.2:c.2083T>C	NP_742105.1:p.Ser695Pro
NM_172108.3:c.1990T>C	NP_742106.1:p.Ser664Pro
XM_006723787.1:c.2125T>C	XP_006723850.1:p.Ser709Pro
XM_011528807.1:c.2191T>C	XP_011527109.1:p.Ser731Pro
XM_011528808.1:c.2188T>C	XP_011527110.1:p.Ser730Pro
XM_011528809.1:c.2161T>C	XP_011527111.1:p.Ser721Pro
XM_011528810.1:c.2137T>C	XP_011527112.1:p.Ser713Pro
XM_011528811.1:c.2107T>C	XP_011527113.1:p.Ser703Pro
XM_011528812.1:c.2080T>C	XP_011527114.1:p.Ser694Pro
XM_011528813.1:c.2065T>C	XP_011527115.1:p.Ser689Pro
XM_011528814.1:c.1672T>C	XP_011527116.1:p.Ser558Pro
NM_004518.5:c.1999T>C	NP_004509.2:p.Ser667Pro
NM_172106.2:c.2029T>C	NP_742104.1:p.Ser677Pro
NM_172107.3:c.2083T>C	NP_742105.1:p.Ser695Pro
NM_172108.4:c.1990T>C	NP_742106.1:p.Ser664Pro
XM_011528810.2:c.2137T>C	XP_011527112.1:p.Ser713Pro
XM_011528811.2:c.2107T>C	XP_011527113.1:p.Ser703Pro
XM_017027841.2:c.2134T>C	XP_016883330.1:p.Ser712Pro
XM_017027842.2:c.2071T>C	XP_016883331.1:p.Ser691Pro
XM_017027843.1:c.2068T>C	XP_016883332.1:p.Ser690Pro
XM_017027844.2:c.2026T>C	XP_016883333.1:p.Ser676Pro
XM_017027845.1:c.1099T>C	XP_016883334.1:p.Ser367Pro
NM_004518.6:c.1999T>C	NP_004509.2:p.Ser667Pro
NM_172106.3:c.2029T>C	NP_742104.1:p.Ser677Pro
NM_172107.4:c.2083T>C MANE Select	NP_742105.1:p.Ser695Pro
NM_172108.5:c.1990T>C	NP_742106.1:p.Ser664Pro
NM_001382235.1:c.2137T>C	NP_001369164.1:p.Ser713Pro