Canonical Allele Identifier: CA409639193

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407253-G-T
• MyVariant Identifiers: chr20:g.62038606G>T (hg19) ; chr20:g.63407253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407253G>T , CM000682.2:g.63407253G>T	GRCh38
NC_000020.10:g.62038606G>T , CM000682.1:g.62038606G>T	GRCh37
NC_000020.9:g.61509050G>T	NCBI36
NG_009004.1:g.70388C>A
NG_009004.2:g.70388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2064C>A	ENSP00000516702.1:p.Tyr688Ter
ENST00000359125.7:c.2010C>A MANE Select	ENSP00000352035.2:p.Tyr670Ter
ENST00000637193.1:c.1407C>A	ENSP00000490734.1:p.Tyr469Ter
ENST00000344462.8:c.1917C>A	ENSP00000339611.4:p.Tyr639Ter
ENST00000357249.6:c.1578C>A	ENSP00000349789.3:p.Tyr526Ter
ENST00000359125.6:c.2010C>A	ENSP00000352035.2:p.Tyr670Ter
ENST00000360480.7:c.1926C>A	ENSP00000353668.3:p.Tyr642Ter
ENST00000370224.5:c.2034C>A	ENSP00000359244.2:p.Tyr678Ter
ENST00000625514.2:c.1998C>A	ENSP00000486040.1:p.Tyr666Ter
ENST00000626839.2:c.1956C>A	ENSP00000486706.1:p.Tyr652Ter
ENST00000629241.2:c.1926C>A	ENSP00000487142.1:p.Tyr642Ter
ENST00000629676.2:c.1679+6197C>A	ENSP00000486194.1:n.1679+6197C>A
NM_004518.4:c.1926C>A	NP_004509.2:p.Tyr642Ter
NM_172106.1:c.1956C>A	NP_742104.1:p.Tyr652Ter
NM_172107.2:c.2010C>A	NP_742105.1:p.Tyr670Ter
NM_172108.3:c.1917C>A	NP_742106.1:p.Tyr639Ter
XM_006723787.1:c.2052C>A	XP_006723850.1:p.Tyr684Ter
XM_011528807.1:c.2118C>A	XP_011527109.1:p.Tyr706Ter
XM_011528808.1:c.2115C>A	XP_011527110.1:p.Tyr705Ter
XM_011528809.1:c.2088C>A	XP_011527111.1:p.Tyr696Ter
XM_011528810.1:c.2064C>A	XP_011527112.1:p.Tyr688Ter
XM_011528811.1:c.2034C>A	XP_011527113.1:p.Tyr678Ter
XM_011528812.1:c.2007C>A	XP_011527114.1:p.Tyr669Ter
XM_011528813.1:c.1992C>A	XP_011527115.1:p.Tyr664Ter
XM_011528814.1:c.1599C>A	XP_011527116.1:p.Tyr533Ter
NM_004518.5:c.1926C>A	NP_004509.2:p.Tyr642Ter
NM_172106.2:c.1956C>A	NP_742104.1:p.Tyr652Ter
NM_172107.3:c.2010C>A	NP_742105.1:p.Tyr670Ter
NM_172108.4:c.1917C>A	NP_742106.1:p.Tyr639Ter
XM_011528810.2:c.2064C>A	XP_011527112.1:p.Tyr688Ter
XM_011528811.2:c.2034C>A	XP_011527113.1:p.Tyr678Ter
XM_017027841.2:c.2061C>A	XP_016883330.1:p.Tyr687Ter
XM_017027842.2:c.1998C>A	XP_016883331.1:p.Tyr666Ter
XM_017027843.1:c.1995C>A	XP_016883332.1:p.Tyr665Ter
XM_017027844.2:c.1953C>A	XP_016883333.1:p.Tyr651Ter
XM_017027845.1:c.1026C>A	XP_016883334.1:p.Tyr342Ter
NM_004518.6:c.1926C>A	NP_004509.2:p.Tyr642Ter
NM_172106.3:c.1956C>A	NP_742104.1:p.Tyr652Ter
NM_172107.4:c.2010C>A MANE Select	NP_742105.1:p.Tyr670Ter
NM_172108.5:c.1917C>A	NP_742106.1:p.Tyr639Ter
NM_001382235.1:c.2064C>A	NP_001369164.1:p.Tyr688Ter