Canonical Allele Identifier: CA409639629

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038728C>G (hg19) ; chr20:g.63407375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407375C>G , CM000682.2:g.63407375C>G	GRCh38
NC_000020.10:g.62038728C>G , CM000682.1:g.62038728C>G	GRCh37
NC_000020.9:g.61509172C>G	NCBI36
NG_009004.1:g.70266G>C
NG_009004.2:g.70266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1942G>C	ENSP00000516702.1:p.Val648Leu
ENST00000359125.7:c.1888G>C MANE Select	ENSP00000352035.2:p.Val630Leu
ENST00000637193.1:c.1285G>C	ENSP00000490734.1:p.Val429Leu
ENST00000637338.1:n.45G>C
ENST00000344462.8:c.1795G>C	ENSP00000339611.4:p.Val599Leu
ENST00000357249.6:c.1456G>C	ENSP00000349789.3:p.Val486Leu
ENST00000359125.6:c.1888G>C	ENSP00000352035.2:p.Val630Leu
ENST00000360480.7:c.1804G>C	ENSP00000353668.3:p.Val602Leu
ENST00000370224.5:c.1912G>C	ENSP00000359244.2:p.Val638Leu
ENST00000625514.2:c.1876G>C	ENSP00000486040.1:p.Val626Leu
ENST00000626839.2:c.1834G>C	ENSP00000486706.1:p.Val612Leu
ENST00000629241.2:c.1804G>C	ENSP00000487142.1:p.Val602Leu
ENST00000629676.2:c.1679+6075G>C	ENSP00000486194.1:n.1679+6075G>C
NM_004518.4:c.1804G>C	NP_004509.2:p.Val602Leu
NM_172106.1:c.1834G>C	NP_742104.1:p.Val612Leu
NM_172107.2:c.1888G>C	NP_742105.1:p.Val630Leu
NM_172108.3:c.1795G>C	NP_742106.1:p.Val599Leu
XM_006723787.1:c.1930G>C	XP_006723850.1:p.Val644Leu
XM_011528807.1:c.1996G>C	XP_011527109.1:p.Val666Leu
XM_011528808.1:c.1993G>C	XP_011527110.1:p.Val665Leu
XM_011528809.1:c.1966G>C	XP_011527111.1:p.Val656Leu
XM_011528810.1:c.1942G>C	XP_011527112.1:p.Val648Leu
XM_011528811.1:c.1912G>C	XP_011527113.1:p.Val638Leu
XM_011528812.1:c.1885G>C	XP_011527114.1:p.Val629Leu
XM_011528813.1:c.1870G>C	XP_011527115.1:p.Val624Leu
XM_011528814.1:c.1477G>C	XP_011527116.1:p.Val493Leu
NM_004518.5:c.1804G>C	NP_004509.2:p.Val602Leu
NM_172106.2:c.1834G>C	NP_742104.1:p.Val612Leu
NM_172107.3:c.1888G>C	NP_742105.1:p.Val630Leu
NM_172108.4:c.1795G>C	NP_742106.1:p.Val599Leu
XM_011528810.2:c.1942G>C	XP_011527112.1:p.Val648Leu
XM_011528811.2:c.1912G>C	XP_011527113.1:p.Val638Leu
XM_017027841.2:c.1939G>C	XP_016883330.1:p.Val647Leu
XM_017027842.2:c.1876G>C	XP_016883331.1:p.Val626Leu
XM_017027843.1:c.1873G>C	XP_016883332.1:p.Val625Leu
XM_017027844.2:c.1831G>C	XP_016883333.1:p.Val611Leu
XM_017027845.1:c.904G>C	XP_016883334.1:p.Val302Leu
NM_004518.6:c.1804G>C	NP_004509.2:p.Val602Leu
NM_172106.3:c.1834G>C	NP_742104.1:p.Val612Leu
NM_172107.4:c.1888G>C MANE Select	NP_742105.1:p.Val630Leu
NM_172108.5:c.1795G>C	NP_742106.1:p.Val599Leu
NM_001382235.1:c.1942G>C	NP_001369164.1:p.Val648Leu