Canonical Allele Identifier: CA746474014

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1247582997
• gnomAD v3: 20-63413909-A-G
• gnomAD v4: 20-63413909-A-G
• MyVariant Identifiers: chr20:g.62045262A>G (hg19) ; chr20:g.63413909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413909A>G , CM000682.2:g.63413909A>G	GRCh38
NC_000020.10:g.62045262A>G , CM000682.1:g.62045262A>G	GRCh37
NC_000020.9:g.61515706A>G	NCBI36
NG_009004.1:g.63732T>C
NG_009004.2:g.63732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1577+179T>C	ENSP00000516702.1:n.1577+179T>C
ENST00000359125.7:c.1631+179T>C MANE Select	ENSP00000352035.2:n.1631+179T>C
ENST00000637193.1:c.1028+179T>C	ENSP00000490734.1:n.1028+179T>C
ENST00000344462.8:c.1538+179T>C	ENSP00000339611.4:n.1538+179T>C
ENST00000357249.6:c.1199+179T>C	ENSP00000349789.3:n.1199+179T>C
ENST00000359125.6:c.1631+179T>C	ENSP00000352035.2:n.1631+179T>C
ENST00000360480.7:c.1547+179T>C	ENSP00000353668.3:n.1547+179T>C
ENST00000370224.5:c.1547+179T>C	ENSP00000359244.2:n.1547+179T>C
ENST00000625514.2:c.1511+179T>C	ENSP00000486040.1:n.1511+179T>C
ENST00000626839.2:c.1577+179T>C	ENSP00000486706.1:n.1577+179T>C
ENST00000629241.2:c.1547+179T>C	ENSP00000487142.1:n.1547+179T>C
ENST00000629318.1:c.239+179T>C	ENSP00000487384.1:n.239+179T>C
ENST00000629676.2:c.1547+179T>C	ENSP00000486194.1:n.1547+179T>C
NM_004518.4:c.1547+179T>C	NP_004509.2:n.1547+179T>C
NM_172106.1:c.1577+179T>C	NP_742104.1:n.1577+179T>C
NM_172107.2:c.1631+179T>C	NP_742105.1:n.1631+179T>C
NM_172108.3:c.1538+179T>C	NP_742106.1:n.1538+179T>C
XM_006723787.1:c.1631+179T>C	XP_006723850.1:n.1631+179T>C
XM_011528807.1:c.1631+179T>C	XP_011527109.1:n.1631+179T>C
XM_011528808.1:c.1628+179T>C	XP_011527110.1:n.1628+179T>C
XM_011528809.1:c.1601+179T>C	XP_011527111.1:n.1601+179T>C
XM_011528810.1:c.1577+179T>C	XP_011527112.1:n.1577+179T>C
XM_011528811.1:c.1547+179T>C	XP_011527113.1:n.1547+179T>C
XM_011528812.1:c.1628+179T>C	XP_011527114.1:n.1628+179T>C
XM_011528813.1:c.1505+179T>C	XP_011527115.1:n.1505+179T>C
XM_011528814.1:c.1112+179T>C	XP_011527116.1:n.1112+179T>C
XM_011528815.1:c.1631+179T>C	XP_011527117.1:n.1631+179T>C
NM_004518.5:c.1547+179T>C	NP_004509.2:n.1547+179T>C
NM_172106.2:c.1577+179T>C	NP_742104.1:n.1577+179T>C
NM_172107.3:c.1631+179T>C	NP_742105.1:n.1631+179T>C
NM_172108.4:c.1538+179T>C	NP_742106.1:n.1538+179T>C
XM_011528810.2:c.1577+179T>C	XP_011527112.1:n.1577+179T>C
XM_011528811.2:c.1547+179T>C	XP_011527113.1:n.1547+179T>C
XM_017027841.2:c.1574+179T>C	XP_016883330.1:n.1574+179T>C
XM_017027842.2:c.1577+179T>C	XP_016883331.1:n.1577+179T>C
XM_017027843.1:c.1508+179T>C	XP_016883332.1:n.1508+179T>C
XM_017027844.2:c.1574+179T>C	XP_016883333.1:n.1574+179T>C
XM_017027845.1:c.539+179T>C	XP_016883334.1:n.539+179T>C
NM_004518.6:c.1547+179T>C	NP_004509.2:n.1547+179T>C
NM_172106.3:c.1577+179T>C	NP_742104.1:n.1577+179T>C
NM_172107.4:c.1631+179T>C MANE Select	NP_742105.1:n.1631+179T>C
NM_172108.5:c.1538+179T>C	NP_742106.1:n.1538+179T>C
NM_001382235.1:c.1577+179T>C	NP_001369164.1:n.1577+179T>C