Canonical Allele Identifier: CA409638042

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038334G>T (hg19) ; chr20:g.63406981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406981G>T , CM000682.2:g.63406981G>T	GRCh38
NC_000020.10:g.62038334G>T , CM000682.1:g.62038334G>T	GRCh37
NC_000020.9:g.61508778G>T	NCBI36
NG_009004.1:g.70660C>A
NG_009004.2:g.70660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2336C>A	ENSP00000516702.1:p.Ala779Asp
ENST00000359125.7:c.2282C>A MANE Select	ENSP00000352035.2:p.Ala761Asp
ENST00000637193.1:c.1679C>A	ENSP00000490734.1:p.Ala560Asp
ENST00000344462.8:c.2189C>A	ENSP00000339611.4:p.Ala730Asp
ENST00000357249.6:c.1850C>A	ENSP00000349789.3:p.Ala617Asp
ENST00000359125.6:c.2282C>A	ENSP00000352035.2:p.Ala761Asp
ENST00000360480.7:c.2198C>A	ENSP00000353668.3:p.Ala733Asp
ENST00000370224.5:c.2241+65C>A	ENSP00000359244.2:n.2241+65C>A
ENST00000625514.2:c.2205+65C>A	ENSP00000486040.1:n.2205+65C>A
ENST00000626839.2:c.2228C>A	ENSP00000486706.1:p.Ala743Asp
ENST00000629241.2:c.2133+65C>A	ENSP00000487142.1:n.2133+65C>A
ENST00000629676.2:c.1680-6138C>A	ENSP00000486194.1:n.1680-6138C>A
NM_004518.4:c.2198C>A	NP_004509.2:p.Ala733Asp
NM_172106.1:c.2228C>A	NP_742104.1:p.Ala743Asp
NM_172107.2:c.2282C>A	NP_742105.1:p.Ala761Asp
NM_172108.3:c.2189C>A	NP_742106.1:p.Ala730Asp
XM_006723787.1:c.2324C>A	XP_006723850.1:p.Ala775Asp
XM_011528807.1:c.2390C>A	XP_011527109.1:p.Ala797Asp
XM_011528808.1:c.2387C>A	XP_011527110.1:p.Ala796Asp
XM_011528809.1:c.2360C>A	XP_011527111.1:p.Ala787Asp
XM_011528810.1:c.2336C>A	XP_011527112.1:p.Ala779Asp
XM_011528811.1:c.2306C>A	XP_011527113.1:p.Ala769Asp
XM_011528812.1:c.2279C>A	XP_011527114.1:p.Ala760Asp
XM_011528813.1:c.2264C>A	XP_011527115.1:p.Ala755Asp
XM_011528814.1:c.1871C>A	XP_011527116.1:p.Ala624Asp
NM_004518.5:c.2198C>A	NP_004509.2:p.Ala733Asp
NM_172106.2:c.2228C>A	NP_742104.1:p.Ala743Asp
NM_172107.3:c.2282C>A	NP_742105.1:p.Ala761Asp
NM_172108.4:c.2189C>A	NP_742106.1:p.Ala730Asp
XM_011528810.2:c.2336C>A	XP_011527112.1:p.Ala779Asp
XM_011528811.2:c.2306C>A	XP_011527113.1:p.Ala769Asp
XM_017027841.2:c.2333C>A	XP_016883330.1:p.Ala778Asp
XM_017027842.2:c.2270C>A	XP_016883331.1:p.Ala757Asp
XM_017027843.1:c.2267C>A	XP_016883332.1:p.Ala756Asp
XM_017027844.2:c.2225C>A	XP_016883333.1:p.Ala742Asp
XM_017027845.1:c.1298C>A	XP_016883334.1:p.Ala433Asp
NM_004518.6:c.2198C>A	NP_004509.2:p.Ala733Asp
NM_172106.3:c.2228C>A	NP_742104.1:p.Ala743Asp
NM_172107.4:c.2282C>A MANE Select	NP_742105.1:p.Ala761Asp
NM_172108.5:c.2189C>A	NP_742106.1:p.Ala730Asp
NM_001382235.1:c.2336C>A	NP_001369164.1:p.Ala779Asp