Canonical Allele Identifier: CA409639250

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407281-G-T
• MyVariant Identifiers: chr20:g.62038634G>T (hg19) ; chr20:g.63407281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407281G>T , CM000682.2:g.63407281G>T	GRCh38
NC_000020.10:g.62038634G>T , CM000682.1:g.62038634G>T	GRCh37
NC_000020.9:g.61509078G>T	NCBI36
NG_009004.1:g.70360C>A
NG_009004.2:g.70360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2036C>A	ENSP00000516702.1:p.Ala679Asp
ENST00000359125.7:c.1982C>A MANE Select	ENSP00000352035.2:p.Ala661Asp
ENST00000637193.1:c.1379C>A	ENSP00000490734.1:p.Ala460Asp
ENST00000344462.8:c.1889C>A	ENSP00000339611.4:p.Ala630Asp
ENST00000357249.6:c.1550C>A	ENSP00000349789.3:p.Ala517Asp
ENST00000359125.6:c.1982C>A	ENSP00000352035.2:p.Ala661Asp
ENST00000360480.7:c.1898C>A	ENSP00000353668.3:p.Ala633Asp
ENST00000370224.5:c.2006C>A	ENSP00000359244.2:p.Ala669Asp
ENST00000625514.2:c.1970C>A	ENSP00000486040.1:p.Ala657Asp
ENST00000626839.2:c.1928C>A	ENSP00000486706.1:p.Ala643Asp
ENST00000629241.2:c.1898C>A	ENSP00000487142.1:p.Ala633Asp
ENST00000629676.2:c.1679+6169C>A	ENSP00000486194.1:n.1679+6169C>A
NM_004518.4:c.1898C>A	NP_004509.2:p.Ala633Asp
NM_172106.1:c.1928C>A	NP_742104.1:p.Ala643Asp
NM_172107.2:c.1982C>A	NP_742105.1:p.Ala661Asp
NM_172108.3:c.1889C>A	NP_742106.1:p.Ala630Asp
XM_006723787.1:c.2024C>A	XP_006723850.1:p.Ala675Asp
XM_011528807.1:c.2090C>A	XP_011527109.1:p.Ala697Asp
XM_011528808.1:c.2087C>A	XP_011527110.1:p.Ala696Asp
XM_011528809.1:c.2060C>A	XP_011527111.1:p.Ala687Asp
XM_011528810.1:c.2036C>A	XP_011527112.1:p.Ala679Asp
XM_011528811.1:c.2006C>A	XP_011527113.1:p.Ala669Asp
XM_011528812.1:c.1979C>A	XP_011527114.1:p.Ala660Asp
XM_011528813.1:c.1964C>A	XP_011527115.1:p.Ala655Asp
XM_011528814.1:c.1571C>A	XP_011527116.1:p.Ala524Asp
NM_004518.5:c.1898C>A	NP_004509.2:p.Ala633Asp
NM_172106.2:c.1928C>A	NP_742104.1:p.Ala643Asp
NM_172107.3:c.1982C>A	NP_742105.1:p.Ala661Asp
NM_172108.4:c.1889C>A	NP_742106.1:p.Ala630Asp
XM_011528810.2:c.2036C>A	XP_011527112.1:p.Ala679Asp
XM_011528811.2:c.2006C>A	XP_011527113.1:p.Ala669Asp
XM_017027841.2:c.2033C>A	XP_016883330.1:p.Ala678Asp
XM_017027842.2:c.1970C>A	XP_016883331.1:p.Ala657Asp
XM_017027843.1:c.1967C>A	XP_016883332.1:p.Ala656Asp
XM_017027844.2:c.1925C>A	XP_016883333.1:p.Ala642Asp
XM_017027845.1:c.998C>A	XP_016883334.1:p.Ala333Asp
NM_004518.6:c.1898C>A	NP_004509.2:p.Ala633Asp
NM_172106.3:c.1928C>A	NP_742104.1:p.Ala643Asp
NM_172107.4:c.1982C>A MANE Select	NP_742105.1:p.Ala661Asp
NM_172108.5:c.1889C>A	NP_742106.1:p.Ala630Asp
NM_001382235.1:c.2036C>A	NP_001369164.1:p.Ala679Asp