Canonical Allele Identifier: CA409645493

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414144-G-T
• MyVariant Identifiers: chr20:g.62045497G>T (hg19) ; chr20:g.63414144G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414144G>T , CM000682.2:g.63414144G>T	GRCh38
NC_000020.10:g.62045497G>T , CM000682.1:g.62045497G>T	GRCh37
NC_000020.9:g.61515941G>T	NCBI36
NG_009004.1:g.63497C>A
NG_009004.2:g.63497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1521C>A	ENSP00000516702.1:p.Cys507Ter
ENST00000359125.7:c.1575C>A MANE Select	ENSP00000352035.2:p.Cys525Ter
ENST00000637193.1:c.972C>A	ENSP00000490734.1:p.Cys324Ter
ENST00000344462.8:c.1482C>A	ENSP00000339611.4:p.Cys494Ter
ENST00000357249.6:c.1143C>A	ENSP00000349789.3:p.Cys381Ter
ENST00000359125.6:c.1575C>A	ENSP00000352035.2:p.Cys525Ter
ENST00000360480.7:c.1491C>A	ENSP00000353668.3:p.Cys497Ter
ENST00000370224.5:c.1491C>A	ENSP00000359244.2:p.Cys497Ter
ENST00000625514.2:c.1455C>A	ENSP00000486040.1:p.Cys485Ter
ENST00000626839.2:c.1521C>A	ENSP00000486706.1:p.Cys507Ter
ENST00000627221.2:c.632C>A
ENST00000629241.2:c.1491C>A	ENSP00000487142.1:p.Cys497Ter
ENST00000629318.1:c.183C>A	ENSP00000487384.1:p.Cys61Ter
ENST00000629676.2:c.1491C>A	ENSP00000486194.1:p.Cys497Ter
NM_004518.4:c.1491C>A	NP_004509.2:p.Cys497Ter
NM_172106.1:c.1521C>A	NP_742104.1:p.Cys507Ter
NM_172107.2:c.1575C>A	NP_742105.1:p.Cys525Ter
NM_172108.3:c.1482C>A	NP_742106.1:p.Cys494Ter
XM_006723787.1:c.1575C>A	XP_006723850.1:p.Cys525Ter
XM_011528807.1:c.1575C>A	XP_011527109.1:p.Cys525Ter
XM_011528808.1:c.1572C>A	XP_011527110.1:p.Cys524Ter
XM_011528809.1:c.1545C>A	XP_011527111.1:p.Cys515Ter
XM_011528810.1:c.1521C>A	XP_011527112.1:p.Cys507Ter
XM_011528811.1:c.1491C>A	XP_011527113.1:p.Cys497Ter
XM_011528812.1:c.1572C>A	XP_011527114.1:p.Cys524Ter
XM_011528813.1:c.1449C>A	XP_011527115.1:p.Cys483Ter
XM_011528814.1:c.1056C>A	XP_011527116.1:p.Cys352Ter
XM_011528815.1:c.1575C>A	XP_011527117.1:p.Cys525Ter
NM_004518.5:c.1491C>A	NP_004509.2:p.Cys497Ter
NM_172106.2:c.1521C>A	NP_742104.1:p.Cys507Ter
NM_172107.3:c.1575C>A	NP_742105.1:p.Cys525Ter
NM_172108.4:c.1482C>A	NP_742106.1:p.Cys494Ter
XM_011528810.2:c.1521C>A	XP_011527112.1:p.Cys507Ter
XM_011528811.2:c.1491C>A	XP_011527113.1:p.Cys497Ter
XM_017027841.2:c.1518C>A	XP_016883330.1:p.Cys506Ter
XM_017027842.2:c.1521C>A	XP_016883331.1:p.Cys507Ter
XM_017027843.1:c.1452C>A	XP_016883332.1:p.Cys484Ter
XM_017027844.2:c.1518C>A	XP_016883333.1:p.Cys506Ter
XM_017027845.1:c.483C>A	XP_016883334.1:p.Cys161Ter
NM_004518.6:c.1491C>A	NP_004509.2:p.Cys497Ter
NM_172106.3:c.1521C>A	NP_742104.1:p.Cys507Ter
NM_172107.4:c.1575C>A MANE Select	NP_742105.1:p.Cys525Ter
NM_172108.5:c.1482C>A	NP_742106.1:p.Cys494Ter
NM_001382235.1:c.1521C>A	NP_001369164.1:p.Cys507Ter