Canonical Allele Identifier: CA511339443

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407256-C-A
• MyVariant Identifiers: chr20:g.62038609C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407256C>A , CM000682.2:g.63407256C>A	GRCh38
NC_000020.10:g.62038609C>A , CM000682.1:g.62038609C>A	GRCh37
NC_000020.9:g.61509053C>A	NCBI36
NG_009004.1:g.70385G>T
NG_009004.2:g.70385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2061G>T	ENSP00000516702.1:p.Pro687=
ENST00000359125.7:c.2007G>T MANE Select	ENSP00000352035.2:p.Pro669=
ENST00000637193.1:c.1404G>T	ENSP00000490734.1:p.Pro468=
ENST00000344462.8:c.1914G>T	ENSP00000339611.4:p.Pro638=
ENST00000357249.6:c.1575G>T	ENSP00000349789.3:p.Pro525=
ENST00000359125.6:c.2007G>T	ENSP00000352035.2:p.Pro669=
ENST00000360480.7:c.1923G>T	ENSP00000353668.3:p.Pro641=
ENST00000370224.5:c.2031G>T	ENSP00000359244.2:p.Pro677=
ENST00000625514.2:c.1995G>T	ENSP00000486040.1:p.Pro665=
ENST00000626839.2:c.1953G>T	ENSP00000486706.1:p.Pro651=
ENST00000629241.2:c.1923G>T	ENSP00000487142.1:p.Pro641=
ENST00000629676.2:c.1679+6194G>T	ENSP00000486194.1:n.1679+6194G>T
NM_004518.4:c.1923G>T	NP_004509.2:p.Pro641=
NM_172106.1:c.1953G>T	NP_742104.1:p.Pro651=
NM_172107.2:c.2007G>T	NP_742105.1:p.Pro669=
NM_172108.3:c.1914G>T	NP_742106.1:p.Pro638=
XM_006723787.1:c.2049G>T	XP_006723850.1:p.Pro683=
XM_011528807.1:c.2115G>T	XP_011527109.1:p.Pro705=
XM_011528808.1:c.2112G>T	XP_011527110.1:p.Pro704=
XM_011528809.1:c.2085G>T	XP_011527111.1:p.Pro695=
XM_011528810.1:c.2061G>T	XP_011527112.1:p.Pro687=
XM_011528811.1:c.2031G>T	XP_011527113.1:p.Pro677=
XM_011528812.1:c.2004G>T	XP_011527114.1:p.Pro668=
XM_011528813.1:c.1989G>T	XP_011527115.1:p.Pro663=
XM_011528814.1:c.1596G>T	XP_011527116.1:p.Pro532=
NM_004518.5:c.1923G>T	NP_004509.2:p.Pro641=
NM_172106.2:c.1953G>T	NP_742104.1:p.Pro651=
NM_172107.3:c.2007G>T	NP_742105.1:p.Pro669=
NM_172108.4:c.1914G>T	NP_742106.1:p.Pro638=
XM_011528810.2:c.2061G>T	XP_011527112.1:p.Pro687=
XM_011528811.2:c.2031G>T	XP_011527113.1:p.Pro677=
XM_017027841.2:c.2058G>T	XP_016883330.1:p.Pro686=
XM_017027842.2:c.1995G>T	XP_016883331.1:p.Pro665=
XM_017027843.1:c.1992G>T	XP_016883332.1:p.Pro664=
XM_017027844.2:c.1950G>T	XP_016883333.1:p.Pro650=
XM_017027845.1:c.1023G>T	XP_016883334.1:p.Pro341=
NM_004518.6:c.1923G>T	NP_004509.2:p.Pro641=
NM_172106.3:c.1953G>T	NP_742104.1:p.Pro651=
NM_172107.4:c.2007G>T MANE Select	NP_742105.1:p.Pro669=
NM_172108.5:c.1914G>T	NP_742106.1:p.Pro638=
NM_001382235.1:c.2061G>T	NP_001369164.1:p.Pro687=