Canonical Allele Identifier: CA409636374

Gene: KCNQ2

Linked Data

• dbSNP Id: rs774595024
• gnomAD v2: 20-62038014-C-T
• gnomAD v4: 20-63406661-C-T
• MyVariant Identifiers: chr20:g.62038014C>T (hg19) ; chr20:g.63406661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406661C>T , CM000682.2:g.63406661C>T	GRCh38
NC_000020.10:g.62038014C>T , CM000682.1:g.62038014C>T	GRCh37
NC_000020.9:g.61508458C>T	NCBI36
NG_009004.1:g.70980G>A
NG_009004.2:g.70980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2656G>A	ENSP00000516702.1:p.Ala886Thr
ENST00000359125.7:c.2602G>A MANE Select	ENSP00000352035.2:p.Ala868Thr
ENST00000637193.1:c.1999G>A	ENSP00000490734.1:p.Ala667Thr
ENST00000344462.8:c.2509G>A	ENSP00000339611.4:p.Ala837Thr
ENST00000357249.6:c.2170G>A	ENSP00000349789.3:p.Ala724Thr
ENST00000359125.6:c.2602G>A	ENSP00000352035.2:p.Ala868Thr
ENST00000360480.7:c.2518G>A	ENSP00000353668.3:p.Ala840Thr
ENST00000370224.5:c.2241+385G>A	ENSP00000359244.2:n.2241+385G>A
ENST00000625514.2:c.2205+385G>A	ENSP00000486040.1:n.2205+385G>A
ENST00000626839.2:c.2548G>A	ENSP00000486706.1:p.Ala850Thr
ENST00000629241.2:c.2133+385G>A	ENSP00000487142.1:n.2133+385G>A
ENST00000629676.2:c.1680-5818G>A	ENSP00000486194.1:n.1680-5818G>A
NM_004518.4:c.2518G>A	NP_004509.2:p.Ala840Thr
NM_172106.1:c.2548G>A	NP_742104.1:p.Ala850Thr
NM_172107.2:c.2602G>A	NP_742105.1:p.Ala868Thr
NM_172108.3:c.2509G>A	NP_742106.1:p.Ala837Thr
XM_006723787.1:c.2644G>A	XP_006723850.1:p.Ala882Thr
XM_011528807.1:c.2710G>A	XP_011527109.1:p.Ala904Thr
XM_011528808.1:c.2707G>A	XP_011527110.1:p.Ala903Thr
XM_011528809.1:c.2680G>A	XP_011527111.1:p.Ala894Thr
XM_011528810.1:c.2656G>A	XP_011527112.1:p.Ala886Thr
XM_011528811.1:c.2626G>A	XP_011527113.1:p.Ala876Thr
XM_011528812.1:c.2599G>A	XP_011527114.1:p.Ala867Thr
XM_011528813.1:c.2584G>A	XP_011527115.1:p.Ala862Thr
XM_011528814.1:c.2191G>A	XP_011527116.1:p.Ala731Thr
NM_004518.5:c.2518G>A	NP_004509.2:p.Ala840Thr
NM_172106.2:c.2548G>A	NP_742104.1:p.Ala850Thr
NM_172107.3:c.2602G>A	NP_742105.1:p.Ala868Thr
NM_172108.4:c.2509G>A	NP_742106.1:p.Ala837Thr
XM_011528810.2:c.2656G>A	XP_011527112.1:p.Ala886Thr
XM_011528811.2:c.2626G>A	XP_011527113.1:p.Ala876Thr
XM_017027841.2:c.2653G>A	XP_016883330.1:p.Ala885Thr
XM_017027842.2:c.2590G>A	XP_016883331.1:p.Ala864Thr
XM_017027843.1:c.2587G>A	XP_016883332.1:p.Ala863Thr
XM_017027844.2:c.2545G>A	XP_016883333.1:p.Ala849Thr
XM_017027845.1:c.1618G>A	XP_016883334.1:p.Ala540Thr
NM_004518.6:c.2518G>A	NP_004509.2:p.Ala840Thr
NM_172106.3:c.2548G>A	NP_742104.1:p.Ala850Thr
NM_172107.4:c.2602G>A MANE Select	NP_742105.1:p.Ala868Thr
NM_172108.5:c.2509G>A	NP_742106.1:p.Ala837Thr
NM_001382235.1:c.2656G>A	NP_001369164.1:p.Ala886Thr