Canonical Allele Identifier: CA409636867

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1251243691
• gnomAD v2: 20-62038128-C-T
• gnomAD v4: 20-63406775-C-T
• MyVariant Identifiers: chr20:g.62038128C>T (hg19) ; chr20:g.63406775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406775C>T , CM000682.2:g.63406775C>T	GRCh38
NC_000020.10:g.62038128C>T , CM000682.1:g.62038128C>T	GRCh37
NC_000020.9:g.61508572C>T	NCBI36
NG_009004.1:g.70866G>A
NG_009004.2:g.70866G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2542G>A	ENSP00000516702.1:p.Val848Ile
ENST00000359125.7:c.2488G>A MANE Select	ENSP00000352035.2:p.Val830Ile
ENST00000637193.1:c.1885G>A	ENSP00000490734.1:p.Val629Ile
ENST00000344462.8:c.2395G>A	ENSP00000339611.4:p.Val799Ile
ENST00000357249.6:c.2056G>A	ENSP00000349789.3:p.Val686Ile
ENST00000359125.6:c.2488G>A	ENSP00000352035.2:p.Val830Ile
ENST00000360480.7:c.2404G>A	ENSP00000353668.3:p.Val802Ile
ENST00000370224.5:c.2241+271G>A	ENSP00000359244.2:n.2241+271G>A
ENST00000625514.2:c.2205+271G>A	ENSP00000486040.1:n.2205+271G>A
ENST00000626839.2:c.2434G>A	ENSP00000486706.1:p.Val812Ile
ENST00000629241.2:c.2133+271G>A	ENSP00000487142.1:n.2133+271G>A
ENST00000629676.2:c.1680-5932G>A	ENSP00000486194.1:n.1680-5932G>A
NM_004518.4:c.2404G>A	NP_004509.2:p.Val802Ile
NM_172106.1:c.2434G>A	NP_742104.1:p.Val812Ile
NM_172107.2:c.2488G>A	NP_742105.1:p.Val830Ile
NM_172108.3:c.2395G>A	NP_742106.1:p.Val799Ile
XM_006723787.1:c.2530G>A	XP_006723850.1:p.Val844Ile
XM_011528807.1:c.2596G>A	XP_011527109.1:p.Val866Ile
XM_011528808.1:c.2593G>A	XP_011527110.1:p.Val865Ile
XM_011528809.1:c.2566G>A	XP_011527111.1:p.Val856Ile
XM_011528810.1:c.2542G>A	XP_011527112.1:p.Val848Ile
XM_011528811.1:c.2512G>A	XP_011527113.1:p.Val838Ile
XM_011528812.1:c.2485G>A	XP_011527114.1:p.Val829Ile
XM_011528813.1:c.2470G>A	XP_011527115.1:p.Val824Ile
XM_011528814.1:c.2077G>A	XP_011527116.1:p.Val693Ile
NM_004518.5:c.2404G>A	NP_004509.2:p.Val802Ile
NM_172106.2:c.2434G>A	NP_742104.1:p.Val812Ile
NM_172107.3:c.2488G>A	NP_742105.1:p.Val830Ile
NM_172108.4:c.2395G>A	NP_742106.1:p.Val799Ile
XM_011528810.2:c.2542G>A	XP_011527112.1:p.Val848Ile
XM_011528811.2:c.2512G>A	XP_011527113.1:p.Val838Ile
XM_017027841.2:c.2539G>A	XP_016883330.1:p.Val847Ile
XM_017027842.2:c.2476G>A	XP_016883331.1:p.Val826Ile
XM_017027843.1:c.2473G>A	XP_016883332.1:p.Val825Ile
XM_017027844.2:c.2431G>A	XP_016883333.1:p.Val811Ile
XM_017027845.1:c.1504G>A	XP_016883334.1:p.Val502Ile
NM_004518.6:c.2404G>A	NP_004509.2:p.Val802Ile
NM_172106.3:c.2434G>A	NP_742104.1:p.Val812Ile
NM_172107.4:c.2488G>A MANE Select	NP_742105.1:p.Val830Ile
NM_172108.5:c.2395G>A	NP_742106.1:p.Val799Ile
NM_001382235.1:c.2542G>A	NP_001369164.1:p.Val848Ile