Canonical Allele Identifier: CA409637456

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2423T>G	ENSP00000516702.1:p.Ile808Ser
ENST00000359125.7:c.2369T>G MANE Select	ENSP00000352035.2:p.Ile790Ser
ENST00000637193.1:c.1766T>G	ENSP00000490734.1:p.Ile589Ser
ENST00000344462.8:c.2276T>G	ENSP00000339611.4:p.Ile759Ser
ENST00000357249.6:c.1937T>G	ENSP00000349789.3:p.Ile646Ser
ENST00000359125.6:c.2369T>G	ENSP00000352035.2:p.Ile790Ser
ENST00000360480.7:c.2285T>G	ENSP00000353668.3:p.Ile762Ser
ENST00000370224.5:c.2241+152T>G	ENSP00000359244.2:n.2241+152T>G
ENST00000625514.2:c.2205+152T>G	ENSP00000486040.1:n.2205+152T>G
ENST00000626839.2:c.2315T>G	ENSP00000486706.1:p.Ile772Ser
ENST00000629241.2:c.2133+152T>G	ENSP00000487142.1:n.2133+152T>G
ENST00000629676.2:c.1680-6051T>G	ENSP00000486194.1:n.1680-6051T>G
NM_004518.4:c.2285T>G	NP_004509.2:p.Ile762Ser
NM_172106.1:c.2315T>G	NP_742104.1:p.Ile772Ser
NM_172107.2:c.2369T>G	NP_742105.1:p.Ile790Ser
NM_172108.3:c.2276T>G	NP_742106.1:p.Ile759Ser
XM_006723787.1:c.2411T>G	XP_006723850.1:p.Ile804Ser
XM_011528807.1:c.2477T>G	XP_011527109.1:p.Ile826Ser
XM_011528808.1:c.2474T>G	XP_011527110.1:p.Ile825Ser
XM_011528809.1:c.2447T>G	XP_011527111.1:p.Ile816Ser
XM_011528810.1:c.2423T>G	XP_011527112.1:p.Ile808Ser
XM_011528811.1:c.2393T>G	XP_011527113.1:p.Ile798Ser
XM_011528812.1:c.2366T>G	XP_011527114.1:p.Ile789Ser
XM_011528813.1:c.2351T>G	XP_011527115.1:p.Ile784Ser
XM_011528814.1:c.1958T>G	XP_011527116.1:p.Ile653Ser
NM_004518.5:c.2285T>G	NP_004509.2:p.Ile762Ser
NM_172106.2:c.2315T>G	NP_742104.1:p.Ile772Ser
NM_172107.3:c.2369T>G	NP_742105.1:p.Ile790Ser
NM_172108.4:c.2276T>G	NP_742106.1:p.Ile759Ser
XM_011528810.2:c.2423T>G	XP_011527112.1:p.Ile808Ser
XM_011528811.2:c.2393T>G	XP_011527113.1:p.Ile798Ser
XM_017027841.2:c.2420T>G	XP_016883330.1:p.Ile807Ser
XM_017027842.2:c.2357T>G	XP_016883331.1:p.Ile786Ser
XM_017027843.1:c.2354T>G	XP_016883332.1:p.Ile785Ser
XM_017027844.2:c.2312T>G	XP_016883333.1:p.Ile771Ser
XM_017027845.1:c.1385T>G	XP_016883334.1:p.Ile462Ser
NM_004518.6:c.2285T>G	NP_004509.2:p.Ile762Ser
NM_172106.3:c.2315T>G	NP_742104.1:p.Ile772Ser
NM_172107.4:c.2369T>G MANE Select	NP_742105.1:p.Ile790Ser
NM_172108.5:c.2276T>G	NP_742106.1:p.Ile759Ser
NM_001382235.1:c.2423T>G	NP_001369164.1:p.Ile808Ser