Canonical Allele Identifier: CA409637199

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406850-A-C
• MyVariant Identifiers: chr20:g.62038203A>C (hg19) ; chr20:g.63406850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406850A>C , CM000682.2:g.63406850A>C	GRCh38
NC_000020.10:g.62038203A>C , CM000682.1:g.62038203A>C	GRCh37
NC_000020.9:g.61508647A>C	NCBI36
NG_009004.1:g.70791T>G
NG_009004.2:g.70791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2467T>G	ENSP00000516702.1:p.Phe823Val
ENST00000359125.7:c.2413T>G MANE Select	ENSP00000352035.2:p.Phe805Val
ENST00000637193.1:c.1810T>G	ENSP00000490734.1:p.Phe604Val
ENST00000344462.8:c.2320T>G	ENSP00000339611.4:p.Phe774Val
ENST00000357249.6:c.1981T>G	ENSP00000349789.3:p.Phe661Val
ENST00000359125.6:c.2413T>G	ENSP00000352035.2:p.Phe805Val
ENST00000360480.7:c.2329T>G	ENSP00000353668.3:p.Phe777Val
ENST00000370224.5:c.2241+196T>G	ENSP00000359244.2:n.2241+196T>G
ENST00000625514.2:c.2205+196T>G	ENSP00000486040.1:n.2205+196T>G
ENST00000626839.2:c.2359T>G	ENSP00000486706.1:p.Phe787Val
ENST00000629241.2:c.2133+196T>G	ENSP00000487142.1:n.2133+196T>G
ENST00000629676.2:c.1680-6007T>G	ENSP00000486194.1:n.1680-6007T>G
NM_004518.4:c.2329T>G	NP_004509.2:p.Phe777Val
NM_172106.1:c.2359T>G	NP_742104.1:p.Phe787Val
NM_172107.2:c.2413T>G	NP_742105.1:p.Phe805Val
NM_172108.3:c.2320T>G	NP_742106.1:p.Phe774Val
XM_006723787.1:c.2455T>G	XP_006723850.1:p.Phe819Val
XM_011528807.1:c.2521T>G	XP_011527109.1:p.Phe841Val
XM_011528808.1:c.2518T>G	XP_011527110.1:p.Phe840Val
XM_011528809.1:c.2491T>G	XP_011527111.1:p.Phe831Val
XM_011528810.1:c.2467T>G	XP_011527112.1:p.Phe823Val
XM_011528811.1:c.2437T>G	XP_011527113.1:p.Phe813Val
XM_011528812.1:c.2410T>G	XP_011527114.1:p.Phe804Val
XM_011528813.1:c.2395T>G	XP_011527115.1:p.Phe799Val
XM_011528814.1:c.2002T>G	XP_011527116.1:p.Phe668Val
NM_004518.5:c.2329T>G	NP_004509.2:p.Phe777Val
NM_172106.2:c.2359T>G	NP_742104.1:p.Phe787Val
NM_172107.3:c.2413T>G	NP_742105.1:p.Phe805Val
NM_172108.4:c.2320T>G	NP_742106.1:p.Phe774Val
XM_011528810.2:c.2467T>G	XP_011527112.1:p.Phe823Val
XM_011528811.2:c.2437T>G	XP_011527113.1:p.Phe813Val
XM_017027841.2:c.2464T>G	XP_016883330.1:p.Phe822Val
XM_017027842.2:c.2401T>G	XP_016883331.1:p.Phe801Val
XM_017027843.1:c.2398T>G	XP_016883332.1:p.Phe800Val
XM_017027844.2:c.2356T>G	XP_016883333.1:p.Phe786Val
XM_017027845.1:c.1429T>G	XP_016883334.1:p.Phe477Val
NM_004518.6:c.2329T>G	NP_004509.2:p.Phe777Val
NM_172106.3:c.2359T>G	NP_742104.1:p.Phe787Val
NM_172107.4:c.2413T>G MANE Select	NP_742105.1:p.Phe805Val
NM_172108.5:c.2320T>G	NP_742106.1:p.Phe774Val
NM_001382235.1:c.2467T>G	NP_001369164.1:p.Phe823Val