Canonical Allele Identifier: CA409639077

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038556A>G (hg19) ; chr20:g.63407203A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407203A>G , CM000682.2:g.63407203A>G	GRCh38
NC_000020.10:g.62038556A>G , CM000682.1:g.62038556A>G	GRCh37
NC_000020.9:g.61509000A>G	NCBI36
NG_009004.1:g.70438T>C
NG_009004.2:g.70438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2114T>C	ENSP00000516702.1:p.Val705Ala
ENST00000359125.7:c.2060T>C MANE Select	ENSP00000352035.2:p.Val687Ala
ENST00000637193.1:c.1457T>C	ENSP00000490734.1:p.Val486Ala
ENST00000344462.8:c.1967T>C	ENSP00000339611.4:p.Val656Ala
ENST00000357249.6:c.1628T>C	ENSP00000349789.3:p.Val543Ala
ENST00000359125.6:c.2060T>C	ENSP00000352035.2:p.Val687Ala
ENST00000360480.7:c.1976T>C	ENSP00000353668.3:p.Val659Ala
ENST00000370224.5:c.2084T>C	ENSP00000359244.2:p.Val695Ala
ENST00000625514.2:c.2048T>C	ENSP00000486040.1:p.Val683Ala
ENST00000626839.2:c.2006T>C	ENSP00000486706.1:p.Val669Ala
ENST00000629241.2:c.1976T>C	ENSP00000487142.1:p.Val659Ala
ENST00000629676.2:c.1679+6247T>C	ENSP00000486194.1:n.1679+6247T>C
NM_004518.4:c.1976T>C	NP_004509.2:p.Val659Ala
NM_172106.1:c.2006T>C	NP_742104.1:p.Val669Ala
NM_172107.2:c.2060T>C	NP_742105.1:p.Val687Ala
NM_172108.3:c.1967T>C	NP_742106.1:p.Val656Ala
XM_006723787.1:c.2102T>C	XP_006723850.1:p.Val701Ala
XM_011528807.1:c.2168T>C	XP_011527109.1:p.Val723Ala
XM_011528808.1:c.2165T>C	XP_011527110.1:p.Val722Ala
XM_011528809.1:c.2138T>C	XP_011527111.1:p.Val713Ala
XM_011528810.1:c.2114T>C	XP_011527112.1:p.Val705Ala
XM_011528811.1:c.2084T>C	XP_011527113.1:p.Val695Ala
XM_011528812.1:c.2057T>C	XP_011527114.1:p.Val686Ala
XM_011528813.1:c.2042T>C	XP_011527115.1:p.Val681Ala
XM_011528814.1:c.1649T>C	XP_011527116.1:p.Val550Ala
NM_004518.5:c.1976T>C	NP_004509.2:p.Val659Ala
NM_172106.2:c.2006T>C	NP_742104.1:p.Val669Ala
NM_172107.3:c.2060T>C	NP_742105.1:p.Val687Ala
NM_172108.4:c.1967T>C	NP_742106.1:p.Val656Ala
XM_011528810.2:c.2114T>C	XP_011527112.1:p.Val705Ala
XM_011528811.2:c.2084T>C	XP_011527113.1:p.Val695Ala
XM_017027841.2:c.2111T>C	XP_016883330.1:p.Val704Ala
XM_017027842.2:c.2048T>C	XP_016883331.1:p.Val683Ala
XM_017027843.1:c.2045T>C	XP_016883332.1:p.Val682Ala
XM_017027844.2:c.2003T>C	XP_016883333.1:p.Val668Ala
XM_017027845.1:c.1076T>C	XP_016883334.1:p.Val359Ala
NM_004518.6:c.1976T>C	NP_004509.2:p.Val659Ala
NM_172106.3:c.2006T>C	NP_742104.1:p.Val669Ala
NM_172107.4:c.2060T>C MANE Select	NP_742105.1:p.Val687Ala
NM_172108.5:c.1967T>C	NP_742106.1:p.Val656Ala
NM_001382235.1:c.2114T>C	NP_001369164.1:p.Val705Ala