Canonical Allele Identifier: CA409639281

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038641A>G (hg19) ; chr20:g.63407288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407288A>G , CM000682.2:g.63407288A>G	GRCh38
NC_000020.10:g.62038641A>G , CM000682.1:g.62038641A>G	GRCh37
NC_000020.9:g.61509085A>G	NCBI36
NG_009004.1:g.70353T>C
NG_009004.2:g.70353T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2029T>C	ENSP00000516702.1:p.Phe677Leu
ENST00000359125.7:c.1975T>C MANE Select	ENSP00000352035.2:p.Phe659Leu
ENST00000637193.1:c.1372T>C	ENSP00000490734.1:p.Phe458Leu
ENST00000344462.8:c.1882T>C	ENSP00000339611.4:p.Phe628Leu
ENST00000357249.6:c.1543T>C	ENSP00000349789.3:p.Phe515Leu
ENST00000359125.6:c.1975T>C	ENSP00000352035.2:p.Phe659Leu
ENST00000360480.7:c.1891T>C	ENSP00000353668.3:p.Phe631Leu
ENST00000370224.5:c.1999T>C	ENSP00000359244.2:p.Phe667Leu
ENST00000625514.2:c.1963T>C	ENSP00000486040.1:p.Phe655Leu
ENST00000626839.2:c.1921T>C	ENSP00000486706.1:p.Phe641Leu
ENST00000629241.2:c.1891T>C	ENSP00000487142.1:p.Phe631Leu
ENST00000629676.2:c.1679+6162T>C	ENSP00000486194.1:n.1679+6162T>C
NM_004518.4:c.1891T>C	NP_004509.2:p.Phe631Leu
NM_172106.1:c.1921T>C	NP_742104.1:p.Phe641Leu
NM_172107.2:c.1975T>C	NP_742105.1:p.Phe659Leu
NM_172108.3:c.1882T>C	NP_742106.1:p.Phe628Leu
XM_006723787.1:c.2017T>C	XP_006723850.1:p.Phe673Leu
XM_011528807.1:c.2083T>C	XP_011527109.1:p.Phe695Leu
XM_011528808.1:c.2080T>C	XP_011527110.1:p.Phe694Leu
XM_011528809.1:c.2053T>C	XP_011527111.1:p.Phe685Leu
XM_011528810.1:c.2029T>C	XP_011527112.1:p.Phe677Leu
XM_011528811.1:c.1999T>C	XP_011527113.1:p.Phe667Leu
XM_011528812.1:c.1972T>C	XP_011527114.1:p.Phe658Leu
XM_011528813.1:c.1957T>C	XP_011527115.1:p.Phe653Leu
XM_011528814.1:c.1564T>C	XP_011527116.1:p.Phe522Leu
NM_004518.5:c.1891T>C	NP_004509.2:p.Phe631Leu
NM_172106.2:c.1921T>C	NP_742104.1:p.Phe641Leu
NM_172107.3:c.1975T>C	NP_742105.1:p.Phe659Leu
NM_172108.4:c.1882T>C	NP_742106.1:p.Phe628Leu
XM_011528810.2:c.2029T>C	XP_011527112.1:p.Phe677Leu
XM_011528811.2:c.1999T>C	XP_011527113.1:p.Phe667Leu
XM_017027841.2:c.2026T>C	XP_016883330.1:p.Phe676Leu
XM_017027842.2:c.1963T>C	XP_016883331.1:p.Phe655Leu
XM_017027843.1:c.1960T>C	XP_016883332.1:p.Phe654Leu
XM_017027844.2:c.1918T>C	XP_016883333.1:p.Phe640Leu
XM_017027845.1:c.991T>C	XP_016883334.1:p.Phe331Leu
NM_004518.6:c.1891T>C	NP_004509.2:p.Phe631Leu
NM_172106.3:c.1921T>C	NP_742104.1:p.Phe641Leu
NM_172107.4:c.1975T>C MANE Select	NP_742105.1:p.Phe659Leu
NM_172108.5:c.1882T>C	NP_742106.1:p.Phe628Leu
NM_001382235.1:c.2029T>C	NP_001369164.1:p.Phe677Leu