Canonical Allele Identifier: CA409637081

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038179T>G (hg19) ; chr20:g.63406826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406826T>G , CM000682.2:g.63406826T>G	GRCh38
NC_000020.10:g.62038179T>G , CM000682.1:g.62038179T>G	GRCh37
NC_000020.9:g.61508623T>G	NCBI36
NG_009004.1:g.70815A>C
NG_009004.2:g.70815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2491A>C	ENSP00000516702.1:p.Asn831His
ENST00000359125.7:c.2437A>C MANE Select	ENSP00000352035.2:p.Asn813His
ENST00000637193.1:c.1834A>C	ENSP00000490734.1:p.Asn612His
ENST00000344462.8:c.2344A>C	ENSP00000339611.4:p.Asn782His
ENST00000357249.6:c.2005A>C	ENSP00000349789.3:p.Asn669His
ENST00000359125.6:c.2437A>C	ENSP00000352035.2:p.Asn813His
ENST00000360480.7:c.2353A>C	ENSP00000353668.3:p.Asn785His
ENST00000370224.5:c.2241+220A>C	ENSP00000359244.2:n.2241+220A>C
ENST00000625514.2:c.2205+220A>C	ENSP00000486040.1:n.2205+220A>C
ENST00000626839.2:c.2383A>C	ENSP00000486706.1:p.Asn795His
ENST00000629241.2:c.2133+220A>C	ENSP00000487142.1:n.2133+220A>C
ENST00000629676.2:c.1680-5983A>C	ENSP00000486194.1:n.1680-5983A>C
NM_004518.4:c.2353A>C	NP_004509.2:p.Asn785His
NM_172106.1:c.2383A>C	NP_742104.1:p.Asn795His
NM_172107.2:c.2437A>C	NP_742105.1:p.Asn813His
NM_172108.3:c.2344A>C	NP_742106.1:p.Asn782His
XM_006723787.1:c.2479A>C	XP_006723850.1:p.Asn827His
XM_011528807.1:c.2545A>C	XP_011527109.1:p.Asn849His
XM_011528808.1:c.2542A>C	XP_011527110.1:p.Asn848His
XM_011528809.1:c.2515A>C	XP_011527111.1:p.Asn839His
XM_011528810.1:c.2491A>C	XP_011527112.1:p.Asn831His
XM_011528811.1:c.2461A>C	XP_011527113.1:p.Asn821His
XM_011528812.1:c.2434A>C	XP_011527114.1:p.Asn812His
XM_011528813.1:c.2419A>C	XP_011527115.1:p.Asn807His
XM_011528814.1:c.2026A>C	XP_011527116.1:p.Asn676His
NM_004518.5:c.2353A>C	NP_004509.2:p.Asn785His
NM_172106.2:c.2383A>C	NP_742104.1:p.Asn795His
NM_172107.3:c.2437A>C	NP_742105.1:p.Asn813His
NM_172108.4:c.2344A>C	NP_742106.1:p.Asn782His
XM_011528810.2:c.2491A>C	XP_011527112.1:p.Asn831His
XM_011528811.2:c.2461A>C	XP_011527113.1:p.Asn821His
XM_017027841.2:c.2488A>C	XP_016883330.1:p.Asn830His
XM_017027842.2:c.2425A>C	XP_016883331.1:p.Asn809His
XM_017027843.1:c.2422A>C	XP_016883332.1:p.Asn808His
XM_017027844.2:c.2380A>C	XP_016883333.1:p.Asn794His
XM_017027845.1:c.1453A>C	XP_016883334.1:p.Asn485His
NM_004518.6:c.2353A>C	NP_004509.2:p.Asn785His
NM_172106.3:c.2383A>C	NP_742104.1:p.Asn795His
NM_172107.4:c.2437A>C MANE Select	NP_742105.1:p.Asn813His
NM_172108.5:c.2344A>C	NP_742106.1:p.Asn782His
NM_001382235.1:c.2491A>C	NP_001369164.1:p.Asn831His