Canonical Allele Identifier: CA409636385

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038016C>G (hg19) ; chr20:g.63406663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406663C>G , CM000682.2:g.63406663C>G	GRCh38
NC_000020.10:g.62038016C>G , CM000682.1:g.62038016C>G	GRCh37
NC_000020.9:g.61508460C>G	NCBI36
NG_009004.1:g.70978G>C
NG_009004.2:g.70978G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2654G>C	ENSP00000516702.1:p.Trp885Ser
ENST00000359125.7:c.2600G>C MANE Select	ENSP00000352035.2:p.Trp867Ser
ENST00000637193.1:c.1997G>C	ENSP00000490734.1:p.Trp666Ser
ENST00000344462.8:c.2507G>C	ENSP00000339611.4:p.Trp836Ser
ENST00000357249.6:c.2168G>C	ENSP00000349789.3:p.Trp723Ser
ENST00000359125.6:c.2600G>C	ENSP00000352035.2:p.Trp867Ser
ENST00000360480.7:c.2516G>C	ENSP00000353668.3:p.Trp839Ser
ENST00000370224.5:c.2241+383G>C	ENSP00000359244.2:n.2241+383G>C
ENST00000625514.2:c.2205+383G>C	ENSP00000486040.1:n.2205+383G>C
ENST00000626839.2:c.2546G>C	ENSP00000486706.1:p.Trp849Ser
ENST00000629241.2:c.2133+383G>C	ENSP00000487142.1:n.2133+383G>C
ENST00000629676.2:c.1680-5820G>C	ENSP00000486194.1:n.1680-5820G>C
NM_004518.4:c.2516G>C	NP_004509.2:p.Trp839Ser
NM_172106.1:c.2546G>C	NP_742104.1:p.Trp849Ser
NM_172107.2:c.2600G>C	NP_742105.1:p.Trp867Ser
NM_172108.3:c.2507G>C	NP_742106.1:p.Trp836Ser
XM_006723787.1:c.2642G>C	XP_006723850.1:p.Trp881Ser
XM_011528807.1:c.2708G>C	XP_011527109.1:p.Trp903Ser
XM_011528808.1:c.2705G>C	XP_011527110.1:p.Trp902Ser
XM_011528809.1:c.2678G>C	XP_011527111.1:p.Trp893Ser
XM_011528810.1:c.2654G>C	XP_011527112.1:p.Trp885Ser
XM_011528811.1:c.2624G>C	XP_011527113.1:p.Trp875Ser
XM_011528812.1:c.2597G>C	XP_011527114.1:p.Trp866Ser
XM_011528813.1:c.2582G>C	XP_011527115.1:p.Trp861Ser
XM_011528814.1:c.2189G>C	XP_011527116.1:p.Trp730Ser
NM_004518.5:c.2516G>C	NP_004509.2:p.Trp839Ser
NM_172106.2:c.2546G>C	NP_742104.1:p.Trp849Ser
NM_172107.3:c.2600G>C	NP_742105.1:p.Trp867Ser
NM_172108.4:c.2507G>C	NP_742106.1:p.Trp836Ser
XM_011528810.2:c.2654G>C	XP_011527112.1:p.Trp885Ser
XM_011528811.2:c.2624G>C	XP_011527113.1:p.Trp875Ser
XM_017027841.2:c.2651G>C	XP_016883330.1:p.Trp884Ser
XM_017027842.2:c.2588G>C	XP_016883331.1:p.Trp863Ser
XM_017027843.1:c.2585G>C	XP_016883332.1:p.Trp862Ser
XM_017027844.2:c.2543G>C	XP_016883333.1:p.Trp848Ser
XM_017027845.1:c.1616G>C	XP_016883334.1:p.Trp539Ser
NM_004518.6:c.2516G>C	NP_004509.2:p.Trp839Ser
NM_172106.3:c.2546G>C	NP_742104.1:p.Trp849Ser
NM_172107.4:c.2600G>C MANE Select	NP_742105.1:p.Trp867Ser
NM_172108.5:c.2507G>C	NP_742106.1:p.Trp836Ser
NM_001382235.1:c.2654G>C	NP_001369164.1:p.Trp885Ser