Canonical Allele Identifier: CA409639118

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407221-T-C
• MyVariant Identifiers: chr20:g.62038574T>C (hg19) ; chr20:g.63407221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407221T>C , CM000682.2:g.63407221T>C	GRCh38
NC_000020.10:g.62038574T>C , CM000682.1:g.62038574T>C	GRCh37
NC_000020.9:g.61509018T>C	NCBI36
NG_009004.1:g.70420A>G
NG_009004.2:g.70420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2096A>G	ENSP00000516702.1:p.Asp699Gly
ENST00000359125.7:c.2042A>G MANE Select	ENSP00000352035.2:p.Asp681Gly
ENST00000637193.1:c.1439A>G	ENSP00000490734.1:p.Asp480Gly
ENST00000344462.8:c.1949A>G	ENSP00000339611.4:p.Asp650Gly
ENST00000357249.6:c.1610A>G	ENSP00000349789.3:p.Asp537Gly
ENST00000359125.6:c.2042A>G	ENSP00000352035.2:p.Asp681Gly
ENST00000360480.7:c.1958A>G	ENSP00000353668.3:p.Asp653Gly
ENST00000370224.5:c.2066A>G	ENSP00000359244.2:p.Asp689Gly
ENST00000625514.2:c.2030A>G	ENSP00000486040.1:p.Asp677Gly
ENST00000626839.2:c.1988A>G	ENSP00000486706.1:p.Asp663Gly
ENST00000629241.2:c.1958A>G	ENSP00000487142.1:p.Asp653Gly
ENST00000629676.2:c.1679+6229A>G	ENSP00000486194.1:n.1679+6229A>G
NM_004518.4:c.1958A>G	NP_004509.2:p.Asp653Gly
NM_172106.1:c.1988A>G	NP_742104.1:p.Asp663Gly
NM_172107.2:c.2042A>G	NP_742105.1:p.Asp681Gly
NM_172108.3:c.1949A>G	NP_742106.1:p.Asp650Gly
XM_006723787.1:c.2084A>G	XP_006723850.1:p.Asp695Gly
XM_011528807.1:c.2150A>G	XP_011527109.1:p.Asp717Gly
XM_011528808.1:c.2147A>G	XP_011527110.1:p.Asp716Gly
XM_011528809.1:c.2120A>G	XP_011527111.1:p.Asp707Gly
XM_011528810.1:c.2096A>G	XP_011527112.1:p.Asp699Gly
XM_011528811.1:c.2066A>G	XP_011527113.1:p.Asp689Gly
XM_011528812.1:c.2039A>G	XP_011527114.1:p.Asp680Gly
XM_011528813.1:c.2024A>G	XP_011527115.1:p.Asp675Gly
XM_011528814.1:c.1631A>G	XP_011527116.1:p.Asp544Gly
NM_004518.5:c.1958A>G	NP_004509.2:p.Asp653Gly
NM_172106.2:c.1988A>G	NP_742104.1:p.Asp663Gly
NM_172107.3:c.2042A>G	NP_742105.1:p.Asp681Gly
NM_172108.4:c.1949A>G	NP_742106.1:p.Asp650Gly
XM_011528810.2:c.2096A>G	XP_011527112.1:p.Asp699Gly
XM_011528811.2:c.2066A>G	XP_011527113.1:p.Asp689Gly
XM_017027841.2:c.2093A>G	XP_016883330.1:p.Asp698Gly
XM_017027842.2:c.2030A>G	XP_016883331.1:p.Asp677Gly
XM_017027843.1:c.2027A>G	XP_016883332.1:p.Asp676Gly
XM_017027844.2:c.1985A>G	XP_016883333.1:p.Asp662Gly
XM_017027845.1:c.1058A>G	XP_016883334.1:p.Asp353Gly
NM_004518.6:c.1958A>G	NP_004509.2:p.Asp653Gly
NM_172106.3:c.1988A>G	NP_742104.1:p.Asp663Gly
NM_172107.4:c.2042A>G MANE Select	NP_742105.1:p.Asp681Gly
NM_172108.5:c.1949A>G	NP_742106.1:p.Asp650Gly
NM_001382235.1:c.2096A>G	NP_001369164.1:p.Asp699Gly