Canonical Allele Identifier: CA409636464

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079944139
• gnomAD v4: 20-63406682-G-A
• MyVariant Identifiers: chr20:g.62038035G>A (hg19) ; chr20:g.63406682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406682G>A , CM000682.2:g.63406682G>A	GRCh38
NC_000020.10:g.62038035G>A , CM000682.1:g.62038035G>A	GRCh37
NC_000020.9:g.61508479G>A	NCBI36
NG_009004.1:g.70959C>T
NG_009004.2:g.70959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2635C>T	ENSP00000516702.1:p.Pro879Ser
ENST00000359125.7:c.2581C>T MANE Select	ENSP00000352035.2:p.Pro861Ser
ENST00000637193.1:c.1978C>T	ENSP00000490734.1:p.Pro660Ser
ENST00000344462.8:c.2488C>T	ENSP00000339611.4:p.Pro830Ser
ENST00000357249.6:c.2149C>T	ENSP00000349789.3:p.Pro717Ser
ENST00000359125.6:c.2581C>T	ENSP00000352035.2:p.Pro861Ser
ENST00000360480.7:c.2497C>T	ENSP00000353668.3:p.Pro833Ser
ENST00000370224.5:c.2241+364C>T	ENSP00000359244.2:n.2241+364C>T
ENST00000625514.2:c.2205+364C>T	ENSP00000486040.1:n.2205+364C>T
ENST00000626839.2:c.2527C>T	ENSP00000486706.1:p.Pro843Ser
ENST00000629241.2:c.2133+364C>T	ENSP00000487142.1:n.2133+364C>T
ENST00000629676.2:c.1680-5839C>T	ENSP00000486194.1:n.1680-5839C>T
NM_004518.4:c.2497C>T	NP_004509.2:p.Pro833Ser
NM_172106.1:c.2527C>T	NP_742104.1:p.Pro843Ser
NM_172107.2:c.2581C>T	NP_742105.1:p.Pro861Ser
NM_172108.3:c.2488C>T	NP_742106.1:p.Pro830Ser
XM_006723787.1:c.2623C>T	XP_006723850.1:p.Pro875Ser
XM_011528807.1:c.2689C>T	XP_011527109.1:p.Pro897Ser
XM_011528808.1:c.2686C>T	XP_011527110.1:p.Pro896Ser
XM_011528809.1:c.2659C>T	XP_011527111.1:p.Pro887Ser
XM_011528810.1:c.2635C>T	XP_011527112.1:p.Pro879Ser
XM_011528811.1:c.2605C>T	XP_011527113.1:p.Pro869Ser
XM_011528812.1:c.2578C>T	XP_011527114.1:p.Pro860Ser
XM_011528813.1:c.2563C>T	XP_011527115.1:p.Pro855Ser
XM_011528814.1:c.2170C>T	XP_011527116.1:p.Pro724Ser
NM_004518.5:c.2497C>T	NP_004509.2:p.Pro833Ser
NM_172106.2:c.2527C>T	NP_742104.1:p.Pro843Ser
NM_172107.3:c.2581C>T	NP_742105.1:p.Pro861Ser
NM_172108.4:c.2488C>T	NP_742106.1:p.Pro830Ser
XM_011528810.2:c.2635C>T	XP_011527112.1:p.Pro879Ser
XM_011528811.2:c.2605C>T	XP_011527113.1:p.Pro869Ser
XM_017027841.2:c.2632C>T	XP_016883330.1:p.Pro878Ser
XM_017027842.2:c.2569C>T	XP_016883331.1:p.Pro857Ser
XM_017027843.1:c.2566C>T	XP_016883332.1:p.Pro856Ser
XM_017027844.2:c.2524C>T	XP_016883333.1:p.Pro842Ser
XM_017027845.1:c.1597C>T	XP_016883334.1:p.Pro533Ser
NM_004518.6:c.2497C>T	NP_004509.2:p.Pro833Ser
NM_172106.3:c.2527C>T	NP_742104.1:p.Pro843Ser
NM_172107.4:c.2581C>T MANE Select	NP_742105.1:p.Pro861Ser
NM_172108.5:c.2488C>T	NP_742106.1:p.Pro830Ser
NM_001382235.1:c.2635C>T	NP_001369164.1:p.Pro879Ser