Canonical Allele Identifier: CA409639329

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407301-C-G
• MyVariant Identifiers: chr20:g.62038654C>G (hg19) ; chr20:g.63407301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407301C>G , CM000682.2:g.63407301C>G	GRCh38
NC_000020.10:g.62038654C>G , CM000682.1:g.62038654C>G	GRCh37
NC_000020.9:g.61509098C>G	NCBI36
NG_009004.1:g.70340G>C
NG_009004.2:g.70340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2016G>C	ENSP00000516702.1:p.Glu672Asp
ENST00000359125.7:c.1962G>C MANE Select	ENSP00000352035.2:p.Glu654Asp
ENST00000637193.1:c.1359G>C	ENSP00000490734.1:p.Glu453Asp
ENST00000344462.8:c.1869G>C	ENSP00000339611.4:p.Glu623Asp
ENST00000357249.6:c.1530G>C	ENSP00000349789.3:p.Glu510Asp
ENST00000359125.6:c.1962G>C	ENSP00000352035.2:p.Glu654Asp
ENST00000360480.7:c.1878G>C	ENSP00000353668.3:p.Glu626Asp
ENST00000370224.5:c.1986G>C	ENSP00000359244.2:p.Glu662Asp
ENST00000625514.2:c.1950G>C	ENSP00000486040.1:p.Glu650Asp
ENST00000626839.2:c.1908G>C	ENSP00000486706.1:p.Glu636Asp
ENST00000629241.2:c.1878G>C	ENSP00000487142.1:p.Glu626Asp
ENST00000629676.2:c.1679+6149G>C	ENSP00000486194.1:n.1679+6149G>C
NM_004518.4:c.1878G>C	NP_004509.2:p.Glu626Asp
NM_172106.1:c.1908G>C	NP_742104.1:p.Glu636Asp
NM_172107.2:c.1962G>C	NP_742105.1:p.Glu654Asp
NM_172108.3:c.1869G>C	NP_742106.1:p.Glu623Asp
XM_006723787.1:c.2004G>C	XP_006723850.1:p.Glu668Asp
XM_011528807.1:c.2070G>C	XP_011527109.1:p.Glu690Asp
XM_011528808.1:c.2067G>C	XP_011527110.1:p.Glu689Asp
XM_011528809.1:c.2040G>C	XP_011527111.1:p.Glu680Asp
XM_011528810.1:c.2016G>C	XP_011527112.1:p.Glu672Asp
XM_011528811.1:c.1986G>C	XP_011527113.1:p.Glu662Asp
XM_011528812.1:c.1959G>C	XP_011527114.1:p.Glu653Asp
XM_011528813.1:c.1944G>C	XP_011527115.1:p.Glu648Asp
XM_011528814.1:c.1551G>C	XP_011527116.1:p.Glu517Asp
NM_004518.5:c.1878G>C	NP_004509.2:p.Glu626Asp
NM_172106.2:c.1908G>C	NP_742104.1:p.Glu636Asp
NM_172107.3:c.1962G>C	NP_742105.1:p.Glu654Asp
NM_172108.4:c.1869G>C	NP_742106.1:p.Glu623Asp
XM_011528810.2:c.2016G>C	XP_011527112.1:p.Glu672Asp
XM_011528811.2:c.1986G>C	XP_011527113.1:p.Glu662Asp
XM_017027841.2:c.2013G>C	XP_016883330.1:p.Glu671Asp
XM_017027842.2:c.1950G>C	XP_016883331.1:p.Glu650Asp
XM_017027843.1:c.1947G>C	XP_016883332.1:p.Glu649Asp
XM_017027844.2:c.1905G>C	XP_016883333.1:p.Glu635Asp
XM_017027845.1:c.978G>C	XP_016883334.1:p.Glu326Asp
NM_004518.6:c.1878G>C	NP_004509.2:p.Glu626Asp
NM_172106.3:c.1908G>C	NP_742104.1:p.Glu636Asp
NM_172107.4:c.1962G>C MANE Select	NP_742105.1:p.Glu654Asp
NM_172108.5:c.1869G>C	NP_742106.1:p.Glu623Asp
NM_001382235.1:c.2016G>C	NP_001369164.1:p.Glu672Asp