Canonical Allele Identifier: CA409636962

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038152C>A (hg19) ; chr20:g.63406799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406799C>A , CM000682.2:g.63406799C>A	GRCh38
NC_000020.10:g.62038152C>A , CM000682.1:g.62038152C>A	GRCh37
NC_000020.9:g.61508596C>A	NCBI36
NG_009004.1:g.70842G>T
NG_009004.2:g.70842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2518G>T	ENSP00000516702.1:p.Ala840Ser
ENST00000359125.7:c.2464G>T MANE Select	ENSP00000352035.2:p.Ala822Ser
ENST00000637193.1:c.1861G>T	ENSP00000490734.1:p.Ala621Ser
ENST00000344462.8:c.2371G>T	ENSP00000339611.4:p.Ala791Ser
ENST00000357249.6:c.2032G>T	ENSP00000349789.3:p.Ala678Ser
ENST00000359125.6:c.2464G>T	ENSP00000352035.2:p.Ala822Ser
ENST00000360480.7:c.2380G>T	ENSP00000353668.3:p.Ala794Ser
ENST00000370224.5:c.2241+247G>T	ENSP00000359244.2:n.2241+247G>T
ENST00000625514.2:c.2205+247G>T	ENSP00000486040.1:n.2205+247G>T
ENST00000626839.2:c.2410G>T	ENSP00000486706.1:p.Ala804Ser
ENST00000629241.2:c.2133+247G>T	ENSP00000487142.1:n.2133+247G>T
ENST00000629676.2:c.1680-5956G>T	ENSP00000486194.1:n.1680-5956G>T
NM_004518.4:c.2380G>T	NP_004509.2:p.Ala794Ser
NM_172106.1:c.2410G>T	NP_742104.1:p.Ala804Ser
NM_172107.2:c.2464G>T	NP_742105.1:p.Ala822Ser
NM_172108.3:c.2371G>T	NP_742106.1:p.Ala791Ser
XM_006723787.1:c.2506G>T	XP_006723850.1:p.Ala836Ser
XM_011528807.1:c.2572G>T	XP_011527109.1:p.Ala858Ser
XM_011528808.1:c.2569G>T	XP_011527110.1:p.Ala857Ser
XM_011528809.1:c.2542G>T	XP_011527111.1:p.Ala848Ser
XM_011528810.1:c.2518G>T	XP_011527112.1:p.Ala840Ser
XM_011528811.1:c.2488G>T	XP_011527113.1:p.Ala830Ser
XM_011528812.1:c.2461G>T	XP_011527114.1:p.Ala821Ser
XM_011528813.1:c.2446G>T	XP_011527115.1:p.Ala816Ser
XM_011528814.1:c.2053G>T	XP_011527116.1:p.Ala685Ser
NM_004518.5:c.2380G>T	NP_004509.2:p.Ala794Ser
NM_172106.2:c.2410G>T	NP_742104.1:p.Ala804Ser
NM_172107.3:c.2464G>T	NP_742105.1:p.Ala822Ser
NM_172108.4:c.2371G>T	NP_742106.1:p.Ala791Ser
XM_011528810.2:c.2518G>T	XP_011527112.1:p.Ala840Ser
XM_011528811.2:c.2488G>T	XP_011527113.1:p.Ala830Ser
XM_017027841.2:c.2515G>T	XP_016883330.1:p.Ala839Ser
XM_017027842.2:c.2452G>T	XP_016883331.1:p.Ala818Ser
XM_017027843.1:c.2449G>T	XP_016883332.1:p.Ala817Ser
XM_017027844.2:c.2407G>T	XP_016883333.1:p.Ala803Ser
XM_017027845.1:c.1480G>T	XP_016883334.1:p.Ala494Ser
NM_004518.6:c.2380G>T	NP_004509.2:p.Ala794Ser
NM_172106.3:c.2410G>T	NP_742104.1:p.Ala804Ser
NM_172107.4:c.2464G>T MANE Select	NP_742105.1:p.Ala822Ser
NM_172108.5:c.2371G>T	NP_742106.1:p.Ala791Ser
NM_001382235.1:c.2518G>T	NP_001369164.1:p.Ala840Ser