Canonical Allele Identifier: CA409638975

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038509C>G (hg19) ; chr20:g.63407156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407156C>G , CM000682.2:g.63407156C>G	GRCh38
NC_000020.10:g.62038509C>G , CM000682.1:g.62038509C>G	GRCh37
NC_000020.9:g.61508953C>G	NCBI36
NG_009004.1:g.70485G>C
NG_009004.2:g.70485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2161G>C	ENSP00000516702.1:p.Ala721Pro
ENST00000359125.7:c.2107G>C MANE Select	ENSP00000352035.2:p.Ala703Pro
ENST00000637193.1:c.1504G>C	ENSP00000490734.1:p.Ala502Pro
ENST00000344462.8:c.2014G>C	ENSP00000339611.4:p.Ala672Pro
ENST00000357249.6:c.1675G>C	ENSP00000349789.3:p.Ala559Pro
ENST00000359125.6:c.2107G>C	ENSP00000352035.2:p.Ala703Pro
ENST00000360480.7:c.2023G>C	ENSP00000353668.3:p.Ala675Pro
ENST00000370224.5:c.2131G>C	ENSP00000359244.2:p.Ala711Pro
ENST00000625514.2:c.2095G>C	ENSP00000486040.1:p.Ala699Pro
ENST00000626839.2:c.2053G>C	ENSP00000486706.1:p.Ala685Pro
ENST00000629241.2:c.2023G>C	ENSP00000487142.1:p.Ala675Pro
ENST00000629676.2:c.1679+6294G>C	ENSP00000486194.1:n.1679+6294G>C
NM_004518.4:c.2023G>C	NP_004509.2:p.Ala675Pro
NM_172106.1:c.2053G>C	NP_742104.1:p.Ala685Pro
NM_172107.2:c.2107G>C	NP_742105.1:p.Ala703Pro
NM_172108.3:c.2014G>C	NP_742106.1:p.Ala672Pro
XM_006723787.1:c.2149G>C	XP_006723850.1:p.Ala717Pro
XM_011528807.1:c.2215G>C	XP_011527109.1:p.Ala739Pro
XM_011528808.1:c.2212G>C	XP_011527110.1:p.Ala738Pro
XM_011528809.1:c.2185G>C	XP_011527111.1:p.Ala729Pro
XM_011528810.1:c.2161G>C	XP_011527112.1:p.Ala721Pro
XM_011528811.1:c.2131G>C	XP_011527113.1:p.Ala711Pro
XM_011528812.1:c.2104G>C	XP_011527114.1:p.Ala702Pro
XM_011528813.1:c.2089G>C	XP_011527115.1:p.Ala697Pro
XM_011528814.1:c.1696G>C	XP_011527116.1:p.Ala566Pro
NM_004518.5:c.2023G>C	NP_004509.2:p.Ala675Pro
NM_172106.2:c.2053G>C	NP_742104.1:p.Ala685Pro
NM_172107.3:c.2107G>C	NP_742105.1:p.Ala703Pro
NM_172108.4:c.2014G>C	NP_742106.1:p.Ala672Pro
XM_011528810.2:c.2161G>C	XP_011527112.1:p.Ala721Pro
XM_011528811.2:c.2131G>C	XP_011527113.1:p.Ala711Pro
XM_017027841.2:c.2158G>C	XP_016883330.1:p.Ala720Pro
XM_017027842.2:c.2095G>C	XP_016883331.1:p.Ala699Pro
XM_017027843.1:c.2092G>C	XP_016883332.1:p.Ala698Pro
XM_017027844.2:c.2050G>C	XP_016883333.1:p.Ala684Pro
XM_017027845.1:c.1123G>C	XP_016883334.1:p.Ala375Pro
NM_004518.6:c.2023G>C	NP_004509.2:p.Ala675Pro
NM_172106.3:c.2053G>C	NP_742104.1:p.Ala685Pro
NM_172107.4:c.2107G>C MANE Select	NP_742105.1:p.Ala703Pro
NM_172108.5:c.2014G>C	NP_742106.1:p.Ala672Pro
NM_001382235.1:c.2161G>C	NP_001369164.1:p.Ala721Pro