Canonical Allele Identifier: CA409638996

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407165-T-C
• MyVariant Identifiers: chr20:g.62038518T>C (hg19) ; chr20:g.63407165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407165T>C , CM000682.2:g.63407165T>C	GRCh38
NC_000020.10:g.62038518T>C , CM000682.1:g.62038518T>C	GRCh37
NC_000020.9:g.61508962T>C	NCBI36
NG_009004.1:g.70476A>G
NG_009004.2:g.70476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2152A>G	ENSP00000516702.1:p.Asn718Asp
ENST00000359125.7:c.2098A>G MANE Select	ENSP00000352035.2:p.Asn700Asp
ENST00000637193.1:c.1495A>G	ENSP00000490734.1:p.Asn499Asp
ENST00000344462.8:c.2005A>G	ENSP00000339611.4:p.Asn669Asp
ENST00000357249.6:c.1666A>G	ENSP00000349789.3:p.Asn556Asp
ENST00000359125.6:c.2098A>G	ENSP00000352035.2:p.Asn700Asp
ENST00000360480.7:c.2014A>G	ENSP00000353668.3:p.Asn672Asp
ENST00000370224.5:c.2122A>G	ENSP00000359244.2:p.Asn708Asp
ENST00000625514.2:c.2086A>G	ENSP00000486040.1:p.Asn696Asp
ENST00000626839.2:c.2044A>G	ENSP00000486706.1:p.Asn682Asp
ENST00000629241.2:c.2014A>G	ENSP00000487142.1:p.Asn672Asp
ENST00000629676.2:c.1679+6285A>G	ENSP00000486194.1:n.1679+6285A>G
NM_004518.4:c.2014A>G	NP_004509.2:p.Asn672Asp
NM_172106.1:c.2044A>G	NP_742104.1:p.Asn682Asp
NM_172107.2:c.2098A>G	NP_742105.1:p.Asn700Asp
NM_172108.3:c.2005A>G	NP_742106.1:p.Asn669Asp
XM_006723787.1:c.2140A>G	XP_006723850.1:p.Asn714Asp
XM_011528807.1:c.2206A>G	XP_011527109.1:p.Asn736Asp
XM_011528808.1:c.2203A>G	XP_011527110.1:p.Asn735Asp
XM_011528809.1:c.2176A>G	XP_011527111.1:p.Asn726Asp
XM_011528810.1:c.2152A>G	XP_011527112.1:p.Asn718Asp
XM_011528811.1:c.2122A>G	XP_011527113.1:p.Asn708Asp
XM_011528812.1:c.2095A>G	XP_011527114.1:p.Asn699Asp
XM_011528813.1:c.2080A>G	XP_011527115.1:p.Asn694Asp
XM_011528814.1:c.1687A>G	XP_011527116.1:p.Asn563Asp
NM_004518.5:c.2014A>G	NP_004509.2:p.Asn672Asp
NM_172106.2:c.2044A>G	NP_742104.1:p.Asn682Asp
NM_172107.3:c.2098A>G	NP_742105.1:p.Asn700Asp
NM_172108.4:c.2005A>G	NP_742106.1:p.Asn669Asp
XM_011528810.2:c.2152A>G	XP_011527112.1:p.Asn718Asp
XM_011528811.2:c.2122A>G	XP_011527113.1:p.Asn708Asp
XM_017027841.2:c.2149A>G	XP_016883330.1:p.Asn717Asp
XM_017027842.2:c.2086A>G	XP_016883331.1:p.Asn696Asp
XM_017027843.1:c.2083A>G	XP_016883332.1:p.Asn695Asp
XM_017027844.2:c.2041A>G	XP_016883333.1:p.Asn681Asp
XM_017027845.1:c.1114A>G	XP_016883334.1:p.Asn372Asp
NM_004518.6:c.2014A>G	NP_004509.2:p.Asn672Asp
NM_172106.3:c.2044A>G	NP_742104.1:p.Asn682Asp
NM_172107.4:c.2098A>G MANE Select	NP_742105.1:p.Asn700Asp
NM_172108.5:c.2005A>G	NP_742106.1:p.Asn669Asp
NM_001382235.1:c.2152A>G	NP_001369164.1:p.Asn718Asp