Canonical Allele Identifier: CA409638988

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407162-A-G
• MyVariant Identifiers: chr20:g.62038515A>G (hg19) ; chr20:g.63407162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407162A>G , CM000682.2:g.63407162A>G	GRCh38
NC_000020.10:g.62038515A>G , CM000682.1:g.62038515A>G	GRCh37
NC_000020.9:g.61508959A>G	NCBI36
NG_009004.1:g.70479T>C
NG_009004.2:g.70479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2155T>C	ENSP00000516702.1:p.Phe719Leu
ENST00000359125.7:c.2101T>C MANE Select	ENSP00000352035.2:p.Phe701Leu
ENST00000637193.1:c.1498T>C	ENSP00000490734.1:p.Phe500Leu
ENST00000344462.8:c.2008T>C	ENSP00000339611.4:p.Phe670Leu
ENST00000357249.6:c.1669T>C	ENSP00000349789.3:p.Phe557Leu
ENST00000359125.6:c.2101T>C	ENSP00000352035.2:p.Phe701Leu
ENST00000360480.7:c.2017T>C	ENSP00000353668.3:p.Phe673Leu
ENST00000370224.5:c.2125T>C	ENSP00000359244.2:p.Phe709Leu
ENST00000625514.2:c.2089T>C	ENSP00000486040.1:p.Phe697Leu
ENST00000626839.2:c.2047T>C	ENSP00000486706.1:p.Phe683Leu
ENST00000629241.2:c.2017T>C	ENSP00000487142.1:p.Phe673Leu
ENST00000629676.2:c.1679+6288T>C	ENSP00000486194.1:n.1679+6288T>C
NM_004518.4:c.2017T>C	NP_004509.2:p.Phe673Leu
NM_172106.1:c.2047T>C	NP_742104.1:p.Phe683Leu
NM_172107.2:c.2101T>C	NP_742105.1:p.Phe701Leu
NM_172108.3:c.2008T>C	NP_742106.1:p.Phe670Leu
XM_006723787.1:c.2143T>C	XP_006723850.1:p.Phe715Leu
XM_011528807.1:c.2209T>C	XP_011527109.1:p.Phe737Leu
XM_011528808.1:c.2206T>C	XP_011527110.1:p.Phe736Leu
XM_011528809.1:c.2179T>C	XP_011527111.1:p.Phe727Leu
XM_011528810.1:c.2155T>C	XP_011527112.1:p.Phe719Leu
XM_011528811.1:c.2125T>C	XP_011527113.1:p.Phe709Leu
XM_011528812.1:c.2098T>C	XP_011527114.1:p.Phe700Leu
XM_011528813.1:c.2083T>C	XP_011527115.1:p.Phe695Leu
XM_011528814.1:c.1690T>C	XP_011527116.1:p.Phe564Leu
NM_004518.5:c.2017T>C	NP_004509.2:p.Phe673Leu
NM_172106.2:c.2047T>C	NP_742104.1:p.Phe683Leu
NM_172107.3:c.2101T>C	NP_742105.1:p.Phe701Leu
NM_172108.4:c.2008T>C	NP_742106.1:p.Phe670Leu
XM_011528810.2:c.2155T>C	XP_011527112.1:p.Phe719Leu
XM_011528811.2:c.2125T>C	XP_011527113.1:p.Phe709Leu
XM_017027841.2:c.2152T>C	XP_016883330.1:p.Phe718Leu
XM_017027842.2:c.2089T>C	XP_016883331.1:p.Phe697Leu
XM_017027843.1:c.2086T>C	XP_016883332.1:p.Phe696Leu
XM_017027844.2:c.2044T>C	XP_016883333.1:p.Phe682Leu
XM_017027845.1:c.1117T>C	XP_016883334.1:p.Phe373Leu
NM_004518.6:c.2017T>C	NP_004509.2:p.Phe673Leu
NM_172106.3:c.2047T>C	NP_742104.1:p.Phe683Leu
NM_172107.4:c.2101T>C MANE Select	NP_742105.1:p.Phe701Leu
NM_172108.5:c.2008T>C	NP_742106.1:p.Phe670Leu
NM_001382235.1:c.2155T>C	NP_001369164.1:p.Phe719Leu