Canonical Allele Identifier: CA409639232

Gene: KCNQ2

Linked Data

• dbSNP Id: rs750771162
• gnomAD v3: 20-63407273-G-T
• gnomAD v4: 20-63407273-G-T
• MyVariant Identifiers: chr20:g.62038626G>T (hg19) ; chr20:g.63407273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407273G>T , CM000682.2:g.63407273G>T	GRCh38
NC_000020.10:g.62038626G>T , CM000682.1:g.62038626G>T	GRCh37
NC_000020.9:g.61509070G>T	NCBI36
NG_009004.1:g.70368C>A
NG_009004.2:g.70368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2044C>A	ENSP00000516702.1:p.Pro682Thr
ENST00000359125.7:c.1990C>A MANE Select	ENSP00000352035.2:p.Pro664Thr
ENST00000637193.1:c.1387C>A	ENSP00000490734.1:p.Pro463Thr
ENST00000344462.8:c.1897C>A	ENSP00000339611.4:p.Pro633Thr
ENST00000357249.6:c.1558C>A	ENSP00000349789.3:p.Pro520Thr
ENST00000359125.6:c.1990C>A	ENSP00000352035.2:p.Pro664Thr
ENST00000360480.7:c.1906C>A	ENSP00000353668.3:p.Pro636Thr
ENST00000370224.5:c.2014C>A	ENSP00000359244.2:p.Pro672Thr
ENST00000625514.2:c.1978C>A	ENSP00000486040.1:p.Pro660Thr
ENST00000626839.2:c.1936C>A	ENSP00000486706.1:p.Pro646Thr
ENST00000629241.2:c.1906C>A	ENSP00000487142.1:p.Pro636Thr
ENST00000629676.2:c.1679+6177C>A	ENSP00000486194.1:n.1679+6177C>A
NM_004518.4:c.1906C>A	NP_004509.2:p.Pro636Thr
NM_172106.1:c.1936C>A	NP_742104.1:p.Pro646Thr
NM_172107.2:c.1990C>A	NP_742105.1:p.Pro664Thr
NM_172108.3:c.1897C>A	NP_742106.1:p.Pro633Thr
XM_006723787.1:c.2032C>A	XP_006723850.1:p.Pro678Thr
XM_011528807.1:c.2098C>A	XP_011527109.1:p.Pro700Thr
XM_011528808.1:c.2095C>A	XP_011527110.1:p.Pro699Thr
XM_011528809.1:c.2068C>A	XP_011527111.1:p.Pro690Thr
XM_011528810.1:c.2044C>A	XP_011527112.1:p.Pro682Thr
XM_011528811.1:c.2014C>A	XP_011527113.1:p.Pro672Thr
XM_011528812.1:c.1987C>A	XP_011527114.1:p.Pro663Thr
XM_011528813.1:c.1972C>A	XP_011527115.1:p.Pro658Thr
XM_011528814.1:c.1579C>A	XP_011527116.1:p.Pro527Thr
NM_004518.5:c.1906C>A	NP_004509.2:p.Pro636Thr
NM_172106.2:c.1936C>A	NP_742104.1:p.Pro646Thr
NM_172107.3:c.1990C>A	NP_742105.1:p.Pro664Thr
NM_172108.4:c.1897C>A	NP_742106.1:p.Pro633Thr
XM_011528810.2:c.2044C>A	XP_011527112.1:p.Pro682Thr
XM_011528811.2:c.2014C>A	XP_011527113.1:p.Pro672Thr
XM_017027841.2:c.2041C>A	XP_016883330.1:p.Pro681Thr
XM_017027842.2:c.1978C>A	XP_016883331.1:p.Pro660Thr
XM_017027843.1:c.1975C>A	XP_016883332.1:p.Pro659Thr
XM_017027844.2:c.1933C>A	XP_016883333.1:p.Pro645Thr
XM_017027845.1:c.1006C>A	XP_016883334.1:p.Pro336Thr
NM_004518.6:c.1906C>A	NP_004509.2:p.Pro636Thr
NM_172106.3:c.1936C>A	NP_742104.1:p.Pro646Thr
NM_172107.4:c.1990C>A MANE Select	NP_742105.1:p.Pro664Thr
NM_172108.5:c.1897C>A	NP_742106.1:p.Pro633Thr
NM_001382235.1:c.2044C>A	NP_001369164.1:p.Pro682Thr