Canonical Allele Identifier: CA409638993

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038517T>A (hg19) ; chr20:g.63407164T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407164T>A , CM000682.2:g.63407164T>A	GRCh38
NC_000020.10:g.62038517T>A , CM000682.1:g.62038517T>A	GRCh37
NC_000020.9:g.61508961T>A	NCBI36
NG_009004.1:g.70477A>T
NG_009004.2:g.70477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2153A>T	ENSP00000516702.1:p.Asn718Ile
ENST00000359125.7:c.2099A>T MANE Select	ENSP00000352035.2:p.Asn700Ile
ENST00000637193.1:c.1496A>T	ENSP00000490734.1:p.Asn499Ile
ENST00000344462.8:c.2006A>T	ENSP00000339611.4:p.Asn669Ile
ENST00000357249.6:c.1667A>T	ENSP00000349789.3:p.Asn556Ile
ENST00000359125.6:c.2099A>T	ENSP00000352035.2:p.Asn700Ile
ENST00000360480.7:c.2015A>T	ENSP00000353668.3:p.Asn672Ile
ENST00000370224.5:c.2123A>T	ENSP00000359244.2:p.Asn708Ile
ENST00000625514.2:c.2087A>T	ENSP00000486040.1:p.Asn696Ile
ENST00000626839.2:c.2045A>T	ENSP00000486706.1:p.Asn682Ile
ENST00000629241.2:c.2015A>T	ENSP00000487142.1:p.Asn672Ile
ENST00000629676.2:c.1679+6286A>T	ENSP00000486194.1:n.1679+6286A>T
NM_004518.4:c.2015A>T	NP_004509.2:p.Asn672Ile
NM_172106.1:c.2045A>T	NP_742104.1:p.Asn682Ile
NM_172107.2:c.2099A>T	NP_742105.1:p.Asn700Ile
NM_172108.3:c.2006A>T	NP_742106.1:p.Asn669Ile
XM_006723787.1:c.2141A>T	XP_006723850.1:p.Asn714Ile
XM_011528807.1:c.2207A>T	XP_011527109.1:p.Asn736Ile
XM_011528808.1:c.2204A>T	XP_011527110.1:p.Asn735Ile
XM_011528809.1:c.2177A>T	XP_011527111.1:p.Asn726Ile
XM_011528810.1:c.2153A>T	XP_011527112.1:p.Asn718Ile
XM_011528811.1:c.2123A>T	XP_011527113.1:p.Asn708Ile
XM_011528812.1:c.2096A>T	XP_011527114.1:p.Asn699Ile
XM_011528813.1:c.2081A>T	XP_011527115.1:p.Asn694Ile
XM_011528814.1:c.1688A>T	XP_011527116.1:p.Asn563Ile
NM_004518.5:c.2015A>T	NP_004509.2:p.Asn672Ile
NM_172106.2:c.2045A>T	NP_742104.1:p.Asn682Ile
NM_172107.3:c.2099A>T	NP_742105.1:p.Asn700Ile
NM_172108.4:c.2006A>T	NP_742106.1:p.Asn669Ile
XM_011528810.2:c.2153A>T	XP_011527112.1:p.Asn718Ile
XM_011528811.2:c.2123A>T	XP_011527113.1:p.Asn708Ile
XM_017027841.2:c.2150A>T	XP_016883330.1:p.Asn717Ile
XM_017027842.2:c.2087A>T	XP_016883331.1:p.Asn696Ile
XM_017027843.1:c.2084A>T	XP_016883332.1:p.Asn695Ile
XM_017027844.2:c.2042A>T	XP_016883333.1:p.Asn681Ile
XM_017027845.1:c.1115A>T	XP_016883334.1:p.Asn372Ile
NM_004518.6:c.2015A>T	NP_004509.2:p.Asn672Ile
NM_172106.3:c.2045A>T	NP_742104.1:p.Asn682Ile
NM_172107.4:c.2099A>T MANE Select	NP_742105.1:p.Asn700Ile
NM_172108.5:c.2006A>T	NP_742106.1:p.Asn669Ile
NM_001382235.1:c.2153A>T	NP_001369164.1:p.Asn718Ile