Canonical Allele Identifier: CA409637567

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038262T>G (hg19) ; chr20:g.63406909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406909T>G , CM000682.2:g.63406909T>G	GRCh38
NC_000020.10:g.62038262T>G , CM000682.1:g.62038262T>G	GRCh37
NC_000020.9:g.61508706T>G	NCBI36
NG_009004.1:g.70732A>C
NG_009004.2:g.70732A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2408A>C	ENSP00000516702.1:p.Asp803Ala
ENST00000359125.7:c.2354A>C MANE Select	ENSP00000352035.2:p.Asp785Ala
ENST00000637193.1:c.1751A>C	ENSP00000490734.1:p.Asp584Ala
ENST00000344462.8:c.2261A>C	ENSP00000339611.4:p.Asp754Ala
ENST00000357249.6:c.1922A>C	ENSP00000349789.3:p.Asp641Ala
ENST00000359125.6:c.2354A>C	ENSP00000352035.2:p.Asp785Ala
ENST00000360480.7:c.2270A>C	ENSP00000353668.3:p.Asp757Ala
ENST00000370224.5:c.2241+137A>C	ENSP00000359244.2:n.2241+137A>C
ENST00000625514.2:c.2205+137A>C	ENSP00000486040.1:n.2205+137A>C
ENST00000626839.2:c.2300A>C	ENSP00000486706.1:p.Asp767Ala
ENST00000629241.2:c.2133+137A>C	ENSP00000487142.1:n.2133+137A>C
ENST00000629676.2:c.1680-6066A>C	ENSP00000486194.1:n.1680-6066A>C
NM_004518.4:c.2270A>C	NP_004509.2:p.Asp757Ala
NM_172106.1:c.2300A>C	NP_742104.1:p.Asp767Ala
NM_172107.2:c.2354A>C	NP_742105.1:p.Asp785Ala
NM_172108.3:c.2261A>C	NP_742106.1:p.Asp754Ala
XM_006723787.1:c.2396A>C	XP_006723850.1:p.Asp799Ala
XM_011528807.1:c.2462A>C	XP_011527109.1:p.Asp821Ala
XM_011528808.1:c.2459A>C	XP_011527110.1:p.Asp820Ala
XM_011528809.1:c.2432A>C	XP_011527111.1:p.Asp811Ala
XM_011528810.1:c.2408A>C	XP_011527112.1:p.Asp803Ala
XM_011528811.1:c.2378A>C	XP_011527113.1:p.Asp793Ala
XM_011528812.1:c.2351A>C	XP_011527114.1:p.Asp784Ala
XM_011528813.1:c.2336A>C	XP_011527115.1:p.Asp779Ala
XM_011528814.1:c.1943A>C	XP_011527116.1:p.Asp648Ala
NM_004518.5:c.2270A>C	NP_004509.2:p.Asp757Ala
NM_172106.2:c.2300A>C	NP_742104.1:p.Asp767Ala
NM_172107.3:c.2354A>C	NP_742105.1:p.Asp785Ala
NM_172108.4:c.2261A>C	NP_742106.1:p.Asp754Ala
XM_011528810.2:c.2408A>C	XP_011527112.1:p.Asp803Ala
XM_011528811.2:c.2378A>C	XP_011527113.1:p.Asp793Ala
XM_017027841.2:c.2405A>C	XP_016883330.1:p.Asp802Ala
XM_017027842.2:c.2342A>C	XP_016883331.1:p.Asp781Ala
XM_017027843.1:c.2339A>C	XP_016883332.1:p.Asp780Ala
XM_017027844.2:c.2297A>C	XP_016883333.1:p.Asp766Ala
XM_017027845.1:c.1370A>C	XP_016883334.1:p.Asp457Ala
NM_004518.6:c.2270A>C	NP_004509.2:p.Asp757Ala
NM_172106.3:c.2300A>C	NP_742104.1:p.Asp767Ala
NM_172107.4:c.2354A>C MANE Select	NP_742105.1:p.Asp785Ala
NM_172108.5:c.2261A>C	NP_742106.1:p.Asp754Ala
NM_001382235.1:c.2408A>C	NP_001369164.1:p.Asp803Ala