Canonical Allele Identifier: CA317422307

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2797097
• ClinVar RCV Id: RCV003753911
• dbSNP Id: rs889532997
• MyVariant Identifiers: chr20:g.62038516G>A (hg19) ; chr20:g.63407163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407163G>A , CM000682.2:g.63407163G>A	GRCh38
NC_000020.10:g.62038516G>A , CM000682.1:g.62038516G>A	GRCh37
NC_000020.9:g.61508960G>A	NCBI36
NG_009004.1:g.70478C>T
NG_009004.2:g.70478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2154C>T	ENSP00000516702.1:p.Asn718=
ENST00000359125.7:c.2100C>T MANE Select	ENSP00000352035.2:p.Asn700=
ENST00000637193.1:c.1497C>T	ENSP00000490734.1:p.Asn499=
ENST00000344462.8:c.2007C>T	ENSP00000339611.4:p.Asn669=
ENST00000357249.6:c.1668C>T	ENSP00000349789.3:p.Asn556=
ENST00000359125.6:c.2100C>T	ENSP00000352035.2:p.Asn700=
ENST00000360480.7:c.2016C>T	ENSP00000353668.3:p.Asn672=
ENST00000370224.5:c.2124C>T	ENSP00000359244.2:p.Asn708=
ENST00000625514.2:c.2088C>T	ENSP00000486040.1:p.Asn696=
ENST00000626839.2:c.2046C>T	ENSP00000486706.1:p.Asn682=
ENST00000629241.2:c.2016C>T	ENSP00000487142.1:p.Asn672=
ENST00000629676.2:c.1679+6287C>T	ENSP00000486194.1:n.1679+6287C>T
NM_004518.4:c.2016C>T	NP_004509.2:p.Asn672=
NM_172106.1:c.2046C>T	NP_742104.1:p.Asn682=
NM_172107.2:c.2100C>T	NP_742105.1:p.Asn700=
NM_172108.3:c.2007C>T	NP_742106.1:p.Asn669=
XM_006723787.1:c.2142C>T	XP_006723850.1:p.Asn714=
XM_011528807.1:c.2208C>T	XP_011527109.1:p.Asn736=
XM_011528808.1:c.2205C>T	XP_011527110.1:p.Asn735=
XM_011528809.1:c.2178C>T	XP_011527111.1:p.Asn726=
XM_011528810.1:c.2154C>T	XP_011527112.1:p.Asn718=
XM_011528811.1:c.2124C>T	XP_011527113.1:p.Asn708=
XM_011528812.1:c.2097C>T	XP_011527114.1:p.Asn699=
XM_011528813.1:c.2082C>T	XP_011527115.1:p.Asn694=
XM_011528814.1:c.1689C>T	XP_011527116.1:p.Asn563=
NM_004518.5:c.2016C>T	NP_004509.2:p.Asn672=
NM_172106.2:c.2046C>T	NP_742104.1:p.Asn682=
NM_172107.3:c.2100C>T	NP_742105.1:p.Asn700=
NM_172108.4:c.2007C>T	NP_742106.1:p.Asn669=
XM_011528810.2:c.2154C>T	XP_011527112.1:p.Asn718=
XM_011528811.2:c.2124C>T	XP_011527113.1:p.Asn708=
XM_017027841.2:c.2151C>T	XP_016883330.1:p.Asn717=
XM_017027842.2:c.2088C>T	XP_016883331.1:p.Asn696=
XM_017027843.1:c.2085C>T	XP_016883332.1:p.Asn695=
XM_017027844.2:c.2043C>T	XP_016883333.1:p.Asn681=
XM_017027845.1:c.1116C>T	XP_016883334.1:p.Asn372=
NM_004518.6:c.2016C>T	NP_004509.2:p.Asn672=
NM_172106.3:c.2046C>T	NP_742104.1:p.Asn682=
NM_172107.4:c.2100C>T MANE Select	NP_742105.1:p.Asn700=
NM_172108.5:c.2007C>T	NP_742106.1:p.Asn669=
NM_001382235.1:c.2154C>T	NP_001369164.1:p.Asn718=