Canonical Allele Identifier: CA409645200

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414107-C-G
• MyVariant Identifiers: chr20:g.62045460C>G (hg19) ; chr20:g.63414107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414107C>G , CM000682.2:g.63414107C>G	GRCh38
NC_000020.10:g.62045460C>G , CM000682.1:g.62045460C>G	GRCh37
NC_000020.9:g.61515904C>G	NCBI36
NG_009004.1:g.63534G>C
NG_009004.2:g.63534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1558G>C	ENSP00000516702.1:p.Val520Leu
ENST00000359125.7:c.1612G>C MANE Select	ENSP00000352035.2:p.Val538Leu
ENST00000637193.1:c.1009G>C	ENSP00000490734.1:p.Val337Leu
ENST00000344462.8:c.1519G>C	ENSP00000339611.4:p.Val507Leu
ENST00000357249.6:c.1180G>C	ENSP00000349789.3:p.Val394Leu
ENST00000359125.6:c.1612G>C	ENSP00000352035.2:p.Val538Leu
ENST00000360480.7:c.1528G>C	ENSP00000353668.3:p.Val510Leu
ENST00000370224.5:c.1528G>C	ENSP00000359244.2:p.Val510Leu
ENST00000625514.2:c.1492G>C	ENSP00000486040.1:p.Val498Leu
ENST00000626839.2:c.1558G>C	ENSP00000486706.1:p.Val520Leu
ENST00000627221.2:c.669G>C
ENST00000629241.2:c.1528G>C	ENSP00000487142.1:p.Val510Leu
ENST00000629318.1:c.220G>C	ENSP00000487384.1:p.Val74Leu
ENST00000629676.2:c.1528G>C	ENSP00000486194.1:p.Val510Leu
NM_004518.4:c.1528G>C	NP_004509.2:p.Val510Leu
NM_172106.1:c.1558G>C	NP_742104.1:p.Val520Leu
NM_172107.2:c.1612G>C	NP_742105.1:p.Val538Leu
NM_172108.3:c.1519G>C	NP_742106.1:p.Val507Leu
XM_006723787.1:c.1612G>C	XP_006723850.1:p.Val538Leu
XM_011528807.1:c.1612G>C	XP_011527109.1:p.Val538Leu
XM_011528808.1:c.1609G>C	XP_011527110.1:p.Val537Leu
XM_011528809.1:c.1582G>C	XP_011527111.1:p.Val528Leu
XM_011528810.1:c.1558G>C	XP_011527112.1:p.Val520Leu
XM_011528811.1:c.1528G>C	XP_011527113.1:p.Val510Leu
XM_011528812.1:c.1609G>C	XP_011527114.1:p.Val537Leu
XM_011528813.1:c.1486G>C	XP_011527115.1:p.Val496Leu
XM_011528814.1:c.1093G>C	XP_011527116.1:p.Val365Leu
XM_011528815.1:c.1612G>C	XP_011527117.1:p.Val538Leu
NM_004518.5:c.1528G>C	NP_004509.2:p.Val510Leu
NM_172106.2:c.1558G>C	NP_742104.1:p.Val520Leu
NM_172107.3:c.1612G>C	NP_742105.1:p.Val538Leu
NM_172108.4:c.1519G>C	NP_742106.1:p.Val507Leu
XM_011528810.2:c.1558G>C	XP_011527112.1:p.Val520Leu
XM_011528811.2:c.1528G>C	XP_011527113.1:p.Val510Leu
XM_017027841.2:c.1555G>C	XP_016883330.1:p.Val519Leu
XM_017027842.2:c.1558G>C	XP_016883331.1:p.Val520Leu
XM_017027843.1:c.1489G>C	XP_016883332.1:p.Val497Leu
XM_017027844.2:c.1555G>C	XP_016883333.1:p.Val519Leu
XM_017027845.1:c.520G>C	XP_016883334.1:p.Val174Leu
NM_004518.6:c.1528G>C	NP_004509.2:p.Val510Leu
NM_172106.3:c.1558G>C	NP_742104.1:p.Val520Leu
NM_172107.4:c.1612G>C MANE Select	NP_742105.1:p.Val538Leu
NM_172108.5:c.1519G>C	NP_742106.1:p.Val507Leu
NM_001382235.1:c.1558G>C	NP_001369164.1:p.Val520Leu