Canonical Allele Identifier: CA409639034

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038535C>T (hg19) ; chr20:g.63407182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407182C>T , CM000682.2:g.63407182C>T	GRCh38
NC_000020.10:g.62038535C>T , CM000682.1:g.62038535C>T	GRCh37
NC_000020.9:g.61508979C>T	NCBI36
NG_009004.1:g.70459G>A
NG_009004.2:g.70459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2135G>A	ENSP00000516702.1:p.Ser712Asn
ENST00000359125.7:c.2081G>A MANE Select	ENSP00000352035.2:p.Ser694Asn
ENST00000637193.1:c.1478G>A	ENSP00000490734.1:p.Ser493Asn
ENST00000344462.8:c.1988G>A	ENSP00000339611.4:p.Ser663Asn
ENST00000357249.6:c.1649G>A	ENSP00000349789.3:p.Ser550Asn
ENST00000359125.6:c.2081G>A	ENSP00000352035.2:p.Ser694Asn
ENST00000360480.7:c.1997G>A	ENSP00000353668.3:p.Ser666Asn
ENST00000370224.5:c.2105G>A	ENSP00000359244.2:p.Ser702Asn
ENST00000625514.2:c.2069G>A	ENSP00000486040.1:p.Ser690Asn
ENST00000626839.2:c.2027G>A	ENSP00000486706.1:p.Ser676Asn
ENST00000629241.2:c.1997G>A	ENSP00000487142.1:p.Ser666Asn
ENST00000629676.2:c.1679+6268G>A	ENSP00000486194.1:n.1679+6268G>A
NM_004518.4:c.1997G>A	NP_004509.2:p.Ser666Asn
NM_172106.1:c.2027G>A	NP_742104.1:p.Ser676Asn
NM_172107.2:c.2081G>A	NP_742105.1:p.Ser694Asn
NM_172108.3:c.1988G>A	NP_742106.1:p.Ser663Asn
XM_006723787.1:c.2123G>A	XP_006723850.1:p.Ser708Asn
XM_011528807.1:c.2189G>A	XP_011527109.1:p.Ser730Asn
XM_011528808.1:c.2186G>A	XP_011527110.1:p.Ser729Asn
XM_011528809.1:c.2159G>A	XP_011527111.1:p.Ser720Asn
XM_011528810.1:c.2135G>A	XP_011527112.1:p.Ser712Asn
XM_011528811.1:c.2105G>A	XP_011527113.1:p.Ser702Asn
XM_011528812.1:c.2078G>A	XP_011527114.1:p.Ser693Asn
XM_011528813.1:c.2063G>A	XP_011527115.1:p.Ser688Asn
XM_011528814.1:c.1670G>A	XP_011527116.1:p.Ser557Asn
NM_004518.5:c.1997G>A	NP_004509.2:p.Ser666Asn
NM_172106.2:c.2027G>A	NP_742104.1:p.Ser676Asn
NM_172107.3:c.2081G>A	NP_742105.1:p.Ser694Asn
NM_172108.4:c.1988G>A	NP_742106.1:p.Ser663Asn
XM_011528810.2:c.2135G>A	XP_011527112.1:p.Ser712Asn
XM_011528811.2:c.2105G>A	XP_011527113.1:p.Ser702Asn
XM_017027841.2:c.2132G>A	XP_016883330.1:p.Ser711Asn
XM_017027842.2:c.2069G>A	XP_016883331.1:p.Ser690Asn
XM_017027843.1:c.2066G>A	XP_016883332.1:p.Ser689Asn
XM_017027844.2:c.2024G>A	XP_016883333.1:p.Ser675Asn
XM_017027845.1:c.1097G>A	XP_016883334.1:p.Ser366Asn
NM_004518.6:c.1997G>A	NP_004509.2:p.Ser666Asn
NM_172106.3:c.2027G>A	NP_742104.1:p.Ser676Asn
NM_172107.4:c.2081G>A MANE Select	NP_742105.1:p.Ser694Asn
NM_172108.5:c.1988G>A	NP_742106.1:p.Ser663Asn
NM_001382235.1:c.2135G>A	NP_001369164.1:p.Ser712Asn