Canonical Allele Identifier: CA409639172

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407245-G-T
• MyVariant Identifiers: chr20:g.62038598G>T (hg19) ; chr20:g.63407245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407245G>T , CM000682.2:g.63407245G>T	GRCh38
NC_000020.10:g.62038598G>T , CM000682.1:g.62038598G>T	GRCh37
NC_000020.9:g.61509042G>T	NCBI36
NG_009004.1:g.70396C>A
NG_009004.2:g.70396C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2072C>A	ENSP00000516702.1:p.Pro691Gln
ENST00000359125.7:c.2018C>A MANE Select	ENSP00000352035.2:p.Pro673Gln
ENST00000637193.1:c.1415C>A	ENSP00000490734.1:p.Pro472Gln
ENST00000344462.8:c.1925C>A	ENSP00000339611.4:p.Pro642Gln
ENST00000357249.6:c.1586C>A	ENSP00000349789.3:p.Pro529Gln
ENST00000359125.6:c.2018C>A	ENSP00000352035.2:p.Pro673Gln
ENST00000360480.7:c.1934C>A	ENSP00000353668.3:p.Pro645Gln
ENST00000370224.5:c.2042C>A	ENSP00000359244.2:p.Pro681Gln
ENST00000625514.2:c.2006C>A	ENSP00000486040.1:p.Pro669Gln
ENST00000626839.2:c.1964C>A	ENSP00000486706.1:p.Pro655Gln
ENST00000629241.2:c.1934C>A	ENSP00000487142.1:p.Pro645Gln
ENST00000629676.2:c.1679+6205C>A	ENSP00000486194.1:n.1679+6205C>A
NM_004518.4:c.1934C>A	NP_004509.2:p.Pro645Gln
NM_172106.1:c.1964C>A	NP_742104.1:p.Pro655Gln
NM_172107.2:c.2018C>A	NP_742105.1:p.Pro673Gln
NM_172108.3:c.1925C>A	NP_742106.1:p.Pro642Gln
XM_006723787.1:c.2060C>A	XP_006723850.1:p.Pro687Gln
XM_011528807.1:c.2126C>A	XP_011527109.1:p.Pro709Gln
XM_011528808.1:c.2123C>A	XP_011527110.1:p.Pro708Gln
XM_011528809.1:c.2096C>A	XP_011527111.1:p.Pro699Gln
XM_011528810.1:c.2072C>A	XP_011527112.1:p.Pro691Gln
XM_011528811.1:c.2042C>A	XP_011527113.1:p.Pro681Gln
XM_011528812.1:c.2015C>A	XP_011527114.1:p.Pro672Gln
XM_011528813.1:c.2000C>A	XP_011527115.1:p.Pro667Gln
XM_011528814.1:c.1607C>A	XP_011527116.1:p.Pro536Gln
NM_004518.5:c.1934C>A	NP_004509.2:p.Pro645Gln
NM_172106.2:c.1964C>A	NP_742104.1:p.Pro655Gln
NM_172107.3:c.2018C>A	NP_742105.1:p.Pro673Gln
NM_172108.4:c.1925C>A	NP_742106.1:p.Pro642Gln
XM_011528810.2:c.2072C>A	XP_011527112.1:p.Pro691Gln
XM_011528811.2:c.2042C>A	XP_011527113.1:p.Pro681Gln
XM_017027841.2:c.2069C>A	XP_016883330.1:p.Pro690Gln
XM_017027842.2:c.2006C>A	XP_016883331.1:p.Pro669Gln
XM_017027843.1:c.2003C>A	XP_016883332.1:p.Pro668Gln
XM_017027844.2:c.1961C>A	XP_016883333.1:p.Pro654Gln
XM_017027845.1:c.1034C>A	XP_016883334.1:p.Pro345Gln
NM_004518.6:c.1934C>A	NP_004509.2:p.Pro645Gln
NM_172106.3:c.1964C>A	NP_742104.1:p.Pro655Gln
NM_172107.4:c.2018C>A MANE Select	NP_742105.1:p.Pro673Gln
NM_172108.5:c.1925C>A	NP_742106.1:p.Pro642Gln
NM_001382235.1:c.2072C>A	NP_001369164.1:p.Pro691Gln