Canonical Allele Identifier: CA409637460

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038247A>T (hg19) ; chr20:g.63406894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406894A>T , CM000682.2:g.63406894A>T	GRCh38
NC_000020.10:g.62038247A>T , CM000682.1:g.62038247A>T	GRCh37
NC_000020.9:g.61508691A>T	NCBI36
NG_009004.1:g.70747T>A
NG_009004.2:g.70747T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2423T>A	ENSP00000516702.1:p.Ile808Asn
ENST00000359125.7:c.2369T>A MANE Select	ENSP00000352035.2:p.Ile790Asn
ENST00000637193.1:c.1766T>A	ENSP00000490734.1:p.Ile589Asn
ENST00000344462.8:c.2276T>A	ENSP00000339611.4:p.Ile759Asn
ENST00000357249.6:c.1937T>A	ENSP00000349789.3:p.Ile646Asn
ENST00000359125.6:c.2369T>A	ENSP00000352035.2:p.Ile790Asn
ENST00000360480.7:c.2285T>A	ENSP00000353668.3:p.Ile762Asn
ENST00000370224.5:c.2241+152T>A	ENSP00000359244.2:n.2241+152T>A
ENST00000625514.2:c.2205+152T>A	ENSP00000486040.1:n.2205+152T>A
ENST00000626839.2:c.2315T>A	ENSP00000486706.1:p.Ile772Asn
ENST00000629241.2:c.2133+152T>A	ENSP00000487142.1:n.2133+152T>A
ENST00000629676.2:c.1680-6051T>A	ENSP00000486194.1:n.1680-6051T>A
NM_004518.4:c.2285T>A	NP_004509.2:p.Ile762Asn
NM_172106.1:c.2315T>A	NP_742104.1:p.Ile772Asn
NM_172107.2:c.2369T>A	NP_742105.1:p.Ile790Asn
NM_172108.3:c.2276T>A	NP_742106.1:p.Ile759Asn
XM_006723787.1:c.2411T>A	XP_006723850.1:p.Ile804Asn
XM_011528807.1:c.2477T>A	XP_011527109.1:p.Ile826Asn
XM_011528808.1:c.2474T>A	XP_011527110.1:p.Ile825Asn
XM_011528809.1:c.2447T>A	XP_011527111.1:p.Ile816Asn
XM_011528810.1:c.2423T>A	XP_011527112.1:p.Ile808Asn
XM_011528811.1:c.2393T>A	XP_011527113.1:p.Ile798Asn
XM_011528812.1:c.2366T>A	XP_011527114.1:p.Ile789Asn
XM_011528813.1:c.2351T>A	XP_011527115.1:p.Ile784Asn
XM_011528814.1:c.1958T>A	XP_011527116.1:p.Ile653Asn
NM_004518.5:c.2285T>A	NP_004509.2:p.Ile762Asn
NM_172106.2:c.2315T>A	NP_742104.1:p.Ile772Asn
NM_172107.3:c.2369T>A	NP_742105.1:p.Ile790Asn
NM_172108.4:c.2276T>A	NP_742106.1:p.Ile759Asn
XM_011528810.2:c.2423T>A	XP_011527112.1:p.Ile808Asn
XM_011528811.2:c.2393T>A	XP_011527113.1:p.Ile798Asn
XM_017027841.2:c.2420T>A	XP_016883330.1:p.Ile807Asn
XM_017027842.2:c.2357T>A	XP_016883331.1:p.Ile786Asn
XM_017027843.1:c.2354T>A	XP_016883332.1:p.Ile785Asn
XM_017027844.2:c.2312T>A	XP_016883333.1:p.Ile771Asn
XM_017027845.1:c.1385T>A	XP_016883334.1:p.Ile462Asn
NM_004518.6:c.2285T>A	NP_004509.2:p.Ile762Asn
NM_172106.3:c.2315T>A	NP_742104.1:p.Ile772Asn
NM_172107.4:c.2369T>A MANE Select	NP_742105.1:p.Ile790Asn
NM_172108.5:c.2276T>A	NP_742106.1:p.Ile759Asn
NM_001382235.1:c.2423T>A	NP_001369164.1:p.Ile808Asn