Canonical Allele Identifier: CA409637162

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406843-A-G
• MyVariant Identifiers: chr20:g.62038196A>G (hg19) ; chr20:g.63406843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406843A>G , CM000682.2:g.63406843A>G	GRCh38
NC_000020.10:g.62038196A>G , CM000682.1:g.62038196A>G	GRCh37
NC_000020.9:g.61508640A>G	NCBI36
NG_009004.1:g.70798T>C
NG_009004.2:g.70798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2474T>C	ENSP00000516702.1:p.Ile825Thr
ENST00000359125.7:c.2420T>C MANE Select	ENSP00000352035.2:p.Ile807Thr
ENST00000637193.1:c.1817T>C	ENSP00000490734.1:p.Ile606Thr
ENST00000344462.8:c.2327T>C	ENSP00000339611.4:p.Ile776Thr
ENST00000357249.6:c.1988T>C	ENSP00000349789.3:p.Ile663Thr
ENST00000359125.6:c.2420T>C	ENSP00000352035.2:p.Ile807Thr
ENST00000360480.7:c.2336T>C	ENSP00000353668.3:p.Ile779Thr
ENST00000370224.5:c.2241+203T>C	ENSP00000359244.2:n.2241+203T>C
ENST00000625514.2:c.2205+203T>C	ENSP00000486040.1:n.2205+203T>C
ENST00000626839.2:c.2366T>C	ENSP00000486706.1:p.Ile789Thr
ENST00000629241.2:c.2133+203T>C	ENSP00000487142.1:n.2133+203T>C
ENST00000629676.2:c.1680-6000T>C	ENSP00000486194.1:n.1680-6000T>C
NM_004518.4:c.2336T>C	NP_004509.2:p.Ile779Thr
NM_172106.1:c.2366T>C	NP_742104.1:p.Ile789Thr
NM_172107.2:c.2420T>C	NP_742105.1:p.Ile807Thr
NM_172108.3:c.2327T>C	NP_742106.1:p.Ile776Thr
XM_006723787.1:c.2462T>C	XP_006723850.1:p.Ile821Thr
XM_011528807.1:c.2528T>C	XP_011527109.1:p.Ile843Thr
XM_011528808.1:c.2525T>C	XP_011527110.1:p.Ile842Thr
XM_011528809.1:c.2498T>C	XP_011527111.1:p.Ile833Thr
XM_011528810.1:c.2474T>C	XP_011527112.1:p.Ile825Thr
XM_011528811.1:c.2444T>C	XP_011527113.1:p.Ile815Thr
XM_011528812.1:c.2417T>C	XP_011527114.1:p.Ile806Thr
XM_011528813.1:c.2402T>C	XP_011527115.1:p.Ile801Thr
XM_011528814.1:c.2009T>C	XP_011527116.1:p.Ile670Thr
NM_004518.5:c.2336T>C	NP_004509.2:p.Ile779Thr
NM_172106.2:c.2366T>C	NP_742104.1:p.Ile789Thr
NM_172107.3:c.2420T>C	NP_742105.1:p.Ile807Thr
NM_172108.4:c.2327T>C	NP_742106.1:p.Ile776Thr
XM_011528810.2:c.2474T>C	XP_011527112.1:p.Ile825Thr
XM_011528811.2:c.2444T>C	XP_011527113.1:p.Ile815Thr
XM_017027841.2:c.2471T>C	XP_016883330.1:p.Ile824Thr
XM_017027842.2:c.2408T>C	XP_016883331.1:p.Ile803Thr
XM_017027843.1:c.2405T>C	XP_016883332.1:p.Ile802Thr
XM_017027844.2:c.2363T>C	XP_016883333.1:p.Ile788Thr
XM_017027845.1:c.1436T>C	XP_016883334.1:p.Ile479Thr
NM_004518.6:c.2336T>C	NP_004509.2:p.Ile779Thr
NM_172106.3:c.2366T>C	NP_742104.1:p.Ile789Thr
NM_172107.4:c.2420T>C MANE Select	NP_742105.1:p.Ile807Thr
NM_172108.5:c.2327T>C	NP_742106.1:p.Ile776Thr
NM_001382235.1:c.2474T>C	NP_001369164.1:p.Ile825Thr