Canonical Allele Identifier: CA409637226

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2145483482
• MyVariant Identifiers: chr20:g.62038208C>T (hg19) ; chr20:g.63406855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406855C>T , CM000682.2:g.63406855C>T	GRCh38
NC_000020.10:g.62038208C>T , CM000682.1:g.62038208C>T	GRCh37
NC_000020.9:g.61508652C>T	NCBI36
NG_009004.1:g.70786G>A
NG_009004.2:g.70786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2462G>A	ENSP00000516702.1:p.Ser821Asn
ENST00000359125.7:c.2408G>A MANE Select	ENSP00000352035.2:p.Ser803Asn
ENST00000637193.1:c.1805G>A	ENSP00000490734.1:p.Ser602Asn
ENST00000344462.8:c.2315G>A	ENSP00000339611.4:p.Ser772Asn
ENST00000357249.6:c.1976G>A	ENSP00000349789.3:p.Ser659Asn
ENST00000359125.6:c.2408G>A	ENSP00000352035.2:p.Ser803Asn
ENST00000360480.7:c.2324G>A	ENSP00000353668.3:p.Ser775Asn
ENST00000370224.5:c.2241+191G>A	ENSP00000359244.2:n.2241+191G>A
ENST00000625514.2:c.2205+191G>A	ENSP00000486040.1:n.2205+191G>A
ENST00000626839.2:c.2354G>A	ENSP00000486706.1:p.Ser785Asn
ENST00000629241.2:c.2133+191G>A	ENSP00000487142.1:n.2133+191G>A
ENST00000629676.2:c.1680-6012G>A	ENSP00000486194.1:n.1680-6012G>A
NM_004518.4:c.2324G>A	NP_004509.2:p.Ser775Asn
NM_172106.1:c.2354G>A	NP_742104.1:p.Ser785Asn
NM_172107.2:c.2408G>A	NP_742105.1:p.Ser803Asn
NM_172108.3:c.2315G>A	NP_742106.1:p.Ser772Asn
XM_006723787.1:c.2450G>A	XP_006723850.1:p.Ser817Asn
XM_011528807.1:c.2516G>A	XP_011527109.1:p.Ser839Asn
XM_011528808.1:c.2513G>A	XP_011527110.1:p.Ser838Asn
XM_011528809.1:c.2486G>A	XP_011527111.1:p.Ser829Asn
XM_011528810.1:c.2462G>A	XP_011527112.1:p.Ser821Asn
XM_011528811.1:c.2432G>A	XP_011527113.1:p.Ser811Asn
XM_011528812.1:c.2405G>A	XP_011527114.1:p.Ser802Asn
XM_011528813.1:c.2390G>A	XP_011527115.1:p.Ser797Asn
XM_011528814.1:c.1997G>A	XP_011527116.1:p.Ser666Asn
NM_004518.5:c.2324G>A	NP_004509.2:p.Ser775Asn
NM_172106.2:c.2354G>A	NP_742104.1:p.Ser785Asn
NM_172107.3:c.2408G>A	NP_742105.1:p.Ser803Asn
NM_172108.4:c.2315G>A	NP_742106.1:p.Ser772Asn
XM_011528810.2:c.2462G>A	XP_011527112.1:p.Ser821Asn
XM_011528811.2:c.2432G>A	XP_011527113.1:p.Ser811Asn
XM_017027841.2:c.2459G>A	XP_016883330.1:p.Ser820Asn
XM_017027842.2:c.2396G>A	XP_016883331.1:p.Ser799Asn
XM_017027843.1:c.2393G>A	XP_016883332.1:p.Ser798Asn
XM_017027844.2:c.2351G>A	XP_016883333.1:p.Ser784Asn
XM_017027845.1:c.1424G>A	XP_016883334.1:p.Ser475Asn
NM_004518.6:c.2324G>A	NP_004509.2:p.Ser775Asn
NM_172106.3:c.2354G>A	NP_742104.1:p.Ser785Asn
NM_172107.4:c.2408G>A MANE Select	NP_742105.1:p.Ser803Asn
NM_172108.5:c.2315G>A	NP_742106.1:p.Ser772Asn
NM_001382235.1:c.2462G>A	NP_001369164.1:p.Ser821Asn