Canonical Allele Identifier: CA409645694

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1349784695
• gnomAD v2: 20-62045524-G-C
• MyVariant Identifiers: chr20:g.62045524G>C (hg19) ; chr20:g.63414171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414171G>C , CM000682.2:g.63414171G>C	GRCh38
NC_000020.10:g.62045524G>C , CM000682.1:g.62045524G>C	GRCh37
NC_000020.9:g.61515968G>C	NCBI36
NG_009004.1:g.63470C>G
NG_009004.2:g.63470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1494C>G	ENSP00000516702.1:p.Asp498Glu
ENST00000359125.7:c.1548C>G MANE Select	ENSP00000352035.2:p.Asp516Glu
ENST00000637193.1:c.945C>G	ENSP00000490734.1:p.Asp315Glu
ENST00000344462.8:c.1455C>G	ENSP00000339611.4:p.Asp485Glu
ENST00000357249.6:c.1116C>G	ENSP00000349789.3:p.Asp372Glu
ENST00000359125.6:c.1548C>G	ENSP00000352035.2:p.Asp516Glu
ENST00000360480.7:c.1464C>G	ENSP00000353668.3:p.Asp488Glu
ENST00000370224.5:c.1464C>G	ENSP00000359244.2:p.Asp488Glu
ENST00000625514.2:c.1428C>G	ENSP00000486040.1:p.Asp476Glu
ENST00000626839.2:c.1494C>G	ENSP00000486706.1:p.Asp498Glu
ENST00000627221.2:c.605C>G
ENST00000629241.2:c.1464C>G	ENSP00000487142.1:p.Asp488Glu
ENST00000629318.1:c.156C>G	ENSP00000487384.1:p.Asp52Glu
ENST00000629676.2:c.1464C>G	ENSP00000486194.1:p.Asp488Glu
NM_004518.4:c.1464C>G	NP_004509.2:p.Asp488Glu
NM_172106.1:c.1494C>G	NP_742104.1:p.Asp498Glu
NM_172107.2:c.1548C>G	NP_742105.1:p.Asp516Glu
NM_172108.3:c.1455C>G	NP_742106.1:p.Asp485Glu
XM_006723787.1:c.1548C>G	XP_006723850.1:p.Asp516Glu
XM_011528807.1:c.1548C>G	XP_011527109.1:p.Asp516Glu
XM_011528808.1:c.1545C>G	XP_011527110.1:p.Asp515Glu
XM_011528809.1:c.1518C>G	XP_011527111.1:p.Asp506Glu
XM_011528810.1:c.1494C>G	XP_011527112.1:p.Asp498Glu
XM_011528811.1:c.1464C>G	XP_011527113.1:p.Asp488Glu
XM_011528812.1:c.1545C>G	XP_011527114.1:p.Asp515Glu
XM_011528813.1:c.1422C>G	XP_011527115.1:p.Asp474Glu
XM_011528814.1:c.1029C>G	XP_011527116.1:p.Asp343Glu
XM_011528815.1:c.1548C>G	XP_011527117.1:p.Asp516Glu
NM_004518.5:c.1464C>G	NP_004509.2:p.Asp488Glu
NM_172106.2:c.1494C>G	NP_742104.1:p.Asp498Glu
NM_172107.3:c.1548C>G	NP_742105.1:p.Asp516Glu
NM_172108.4:c.1455C>G	NP_742106.1:p.Asp485Glu
XM_011528810.2:c.1494C>G	XP_011527112.1:p.Asp498Glu
XM_011528811.2:c.1464C>G	XP_011527113.1:p.Asp488Glu
XM_017027841.2:c.1491C>G	XP_016883330.1:p.Asp497Glu
XM_017027842.2:c.1494C>G	XP_016883331.1:p.Asp498Glu
XM_017027843.1:c.1425C>G	XP_016883332.1:p.Asp475Glu
XM_017027844.2:c.1491C>G	XP_016883333.1:p.Asp497Glu
XM_017027845.1:c.456C>G	XP_016883334.1:p.Asp152Glu
NM_004518.6:c.1464C>G	NP_004509.2:p.Asp488Glu
NM_172106.3:c.1494C>G	NP_742104.1:p.Asp498Glu
NM_172107.4:c.1548C>G MANE Select	NP_742105.1:p.Asp516Glu
NM_172108.5:c.1455C>G	NP_742106.1:p.Asp485Glu
NM_001382235.1:c.1494C>G	NP_001369164.1:p.Asp498Glu