Canonical Allele Identifier: CA409638729

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038446G>C (hg19) ; chr20:g.63407093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407093G>C , CM000682.2:g.63407093G>C	GRCh38
NC_000020.10:g.62038446G>C , CM000682.1:g.62038446G>C	GRCh37
NC_000020.9:g.61508890G>C	NCBI36
NG_009004.1:g.70548C>G
NG_009004.2:g.70548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2224C>G	ENSP00000516702.1:p.Pro742Ala
ENST00000359125.7:c.2170C>G MANE Select	ENSP00000352035.2:p.Pro724Ala
ENST00000637193.1:c.1567C>G	ENSP00000490734.1:p.Pro523Ala
ENST00000344462.8:c.2077C>G	ENSP00000339611.4:p.Pro693Ala
ENST00000357249.6:c.1738C>G	ENSP00000349789.3:p.Pro580Ala
ENST00000359125.6:c.2170C>G	ENSP00000352035.2:p.Pro724Ala
ENST00000360480.7:c.2086C>G	ENSP00000353668.3:p.Pro696Ala
ENST00000370224.5:c.2194C>G	ENSP00000359244.2:p.Pro732Ala
ENST00000625514.2:c.2158C>G	ENSP00000486040.1:p.Pro720Ala
ENST00000626839.2:c.2116C>G	ENSP00000486706.1:p.Pro706Ala
ENST00000629241.2:c.2086C>G	ENSP00000487142.1:p.Pro696Ala
ENST00000629676.2:c.1680-6250C>G	ENSP00000486194.1:n.1680-6250C>G
NM_004518.4:c.2086C>G	NP_004509.2:p.Pro696Ala
NM_172106.1:c.2116C>G	NP_742104.1:p.Pro706Ala
NM_172107.2:c.2170C>G	NP_742105.1:p.Pro724Ala
NM_172108.3:c.2077C>G	NP_742106.1:p.Pro693Ala
XM_006723787.1:c.2212C>G	XP_006723850.1:p.Pro738Ala
XM_011528807.1:c.2278C>G	XP_011527109.1:p.Pro760Ala
XM_011528808.1:c.2275C>G	XP_011527110.1:p.Pro759Ala
XM_011528809.1:c.2248C>G	XP_011527111.1:p.Pro750Ala
XM_011528810.1:c.2224C>G	XP_011527112.1:p.Pro742Ala
XM_011528811.1:c.2194C>G	XP_011527113.1:p.Pro732Ala
XM_011528812.1:c.2167C>G	XP_011527114.1:p.Pro723Ala
XM_011528813.1:c.2152C>G	XP_011527115.1:p.Pro718Ala
XM_011528814.1:c.1759C>G	XP_011527116.1:p.Pro587Ala
NM_004518.5:c.2086C>G	NP_004509.2:p.Pro696Ala
NM_172106.2:c.2116C>G	NP_742104.1:p.Pro706Ala
NM_172107.3:c.2170C>G	NP_742105.1:p.Pro724Ala
NM_172108.4:c.2077C>G	NP_742106.1:p.Pro693Ala
XM_011528810.2:c.2224C>G	XP_011527112.1:p.Pro742Ala
XM_011528811.2:c.2194C>G	XP_011527113.1:p.Pro732Ala
XM_017027841.2:c.2221C>G	XP_016883330.1:p.Pro741Ala
XM_017027842.2:c.2158C>G	XP_016883331.1:p.Pro720Ala
XM_017027843.1:c.2155C>G	XP_016883332.1:p.Pro719Ala
XM_017027844.2:c.2113C>G	XP_016883333.1:p.Pro705Ala
XM_017027845.1:c.1186C>G	XP_016883334.1:p.Pro396Ala
NM_004518.6:c.2086C>G	NP_004509.2:p.Pro696Ala
NM_172106.3:c.2116C>G	NP_742104.1:p.Pro706Ala
NM_172107.4:c.2170C>G MANE Select	NP_742105.1:p.Pro724Ala
NM_172108.5:c.2077C>G	NP_742106.1:p.Pro693Ala
NM_001382235.1:c.2224C>G	NP_001369164.1:p.Pro742Ala