Canonical Allele Identifier: CA409645309

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414125-G-C
• MyVariant Identifiers: chr20:g.62045478G>C (hg19) ; chr20:g.63414125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414125G>C , CM000682.2:g.63414125G>C	GRCh38
NC_000020.10:g.62045478G>C , CM000682.1:g.62045478G>C	GRCh37
NC_000020.9:g.61515922G>C	NCBI36
NG_009004.1:g.63516C>G
NG_009004.2:g.63516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1540C>G	ENSP00000516702.1:p.Leu514Val
ENST00000359125.7:c.1594C>G MANE Select	ENSP00000352035.2:p.Leu532Val
ENST00000637193.1:c.991C>G	ENSP00000490734.1:p.Leu331Val
ENST00000344462.8:c.1501C>G	ENSP00000339611.4:p.Leu501Val
ENST00000357249.6:c.1162C>G	ENSP00000349789.3:p.Leu388Val
ENST00000359125.6:c.1594C>G	ENSP00000352035.2:p.Leu532Val
ENST00000360480.7:c.1510C>G	ENSP00000353668.3:p.Leu504Val
ENST00000370224.5:c.1510C>G	ENSP00000359244.2:p.Leu504Val
ENST00000625514.2:c.1474C>G	ENSP00000486040.1:p.Leu492Val
ENST00000626839.2:c.1540C>G	ENSP00000486706.1:p.Leu514Val
ENST00000627221.2:c.651C>G
ENST00000629241.2:c.1510C>G	ENSP00000487142.1:p.Leu504Val
ENST00000629318.1:c.202C>G	ENSP00000487384.1:p.Leu68Val
ENST00000629676.2:c.1510C>G	ENSP00000486194.1:p.Leu504Val
NM_004518.4:c.1510C>G	NP_004509.2:p.Leu504Val
NM_172106.1:c.1540C>G	NP_742104.1:p.Leu514Val
NM_172107.2:c.1594C>G	NP_742105.1:p.Leu532Val
NM_172108.3:c.1501C>G	NP_742106.1:p.Leu501Val
XM_006723787.1:c.1594C>G	XP_006723850.1:p.Leu532Val
XM_011528807.1:c.1594C>G	XP_011527109.1:p.Leu532Val
XM_011528808.1:c.1591C>G	XP_011527110.1:p.Leu531Val
XM_011528809.1:c.1564C>G	XP_011527111.1:p.Leu522Val
XM_011528810.1:c.1540C>G	XP_011527112.1:p.Leu514Val
XM_011528811.1:c.1510C>G	XP_011527113.1:p.Leu504Val
XM_011528812.1:c.1591C>G	XP_011527114.1:p.Leu531Val
XM_011528813.1:c.1468C>G	XP_011527115.1:p.Leu490Val
XM_011528814.1:c.1075C>G	XP_011527116.1:p.Leu359Val
XM_011528815.1:c.1594C>G	XP_011527117.1:p.Leu532Val
NM_004518.5:c.1510C>G	NP_004509.2:p.Leu504Val
NM_172106.2:c.1540C>G	NP_742104.1:p.Leu514Val
NM_172107.3:c.1594C>G	NP_742105.1:p.Leu532Val
NM_172108.4:c.1501C>G	NP_742106.1:p.Leu501Val
XM_011528810.2:c.1540C>G	XP_011527112.1:p.Leu514Val
XM_011528811.2:c.1510C>G	XP_011527113.1:p.Leu504Val
XM_017027841.2:c.1537C>G	XP_016883330.1:p.Leu513Val
XM_017027842.2:c.1540C>G	XP_016883331.1:p.Leu514Val
XM_017027843.1:c.1471C>G	XP_016883332.1:p.Leu491Val
XM_017027844.2:c.1537C>G	XP_016883333.1:p.Leu513Val
XM_017027845.1:c.502C>G	XP_016883334.1:p.Leu168Val
NM_004518.6:c.1510C>G	NP_004509.2:p.Leu504Val
NM_172106.3:c.1540C>G	NP_742104.1:p.Leu514Val
NM_172107.4:c.1594C>G MANE Select	NP_742105.1:p.Leu532Val
NM_172108.5:c.1501C>G	NP_742106.1:p.Leu501Val
NM_001382235.1:c.1540C>G	NP_001369164.1:p.Leu514Val