Canonical Allele Identifier: CA409636457

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406681-G-A
• MyVariant Identifiers: chr20:g.62038034G>A (hg19) ; chr20:g.63406681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406681G>A , CM000682.2:g.63406681G>A	GRCh38
NC_000020.10:g.62038034G>A , CM000682.1:g.62038034G>A	GRCh37
NC_000020.9:g.61508478G>A	NCBI36
NG_009004.1:g.70960C>T
NG_009004.2:g.70960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2636C>T	ENSP00000516702.1:p.Pro879Leu
ENST00000359125.7:c.2582C>T MANE Select	ENSP00000352035.2:p.Pro861Leu
ENST00000637193.1:c.1979C>T	ENSP00000490734.1:p.Pro660Leu
ENST00000344462.8:c.2489C>T	ENSP00000339611.4:p.Pro830Leu
ENST00000357249.6:c.2150C>T	ENSP00000349789.3:p.Pro717Leu
ENST00000359125.6:c.2582C>T	ENSP00000352035.2:p.Pro861Leu
ENST00000360480.7:c.2498C>T	ENSP00000353668.3:p.Pro833Leu
ENST00000370224.5:c.2241+365C>T	ENSP00000359244.2:n.2241+365C>T
ENST00000625514.2:c.2205+365C>T	ENSP00000486040.1:n.2205+365C>T
ENST00000626839.2:c.2528C>T	ENSP00000486706.1:p.Pro843Leu
ENST00000629241.2:c.2133+365C>T	ENSP00000487142.1:n.2133+365C>T
ENST00000629676.2:c.1680-5838C>T	ENSP00000486194.1:n.1680-5838C>T
NM_004518.4:c.2498C>T	NP_004509.2:p.Pro833Leu
NM_172106.1:c.2528C>T	NP_742104.1:p.Pro843Leu
NM_172107.2:c.2582C>T	NP_742105.1:p.Pro861Leu
NM_172108.3:c.2489C>T	NP_742106.1:p.Pro830Leu
XM_006723787.1:c.2624C>T	XP_006723850.1:p.Pro875Leu
XM_011528807.1:c.2690C>T	XP_011527109.1:p.Pro897Leu
XM_011528808.1:c.2687C>T	XP_011527110.1:p.Pro896Leu
XM_011528809.1:c.2660C>T	XP_011527111.1:p.Pro887Leu
XM_011528810.1:c.2636C>T	XP_011527112.1:p.Pro879Leu
XM_011528811.1:c.2606C>T	XP_011527113.1:p.Pro869Leu
XM_011528812.1:c.2579C>T	XP_011527114.1:p.Pro860Leu
XM_011528813.1:c.2564C>T	XP_011527115.1:p.Pro855Leu
XM_011528814.1:c.2171C>T	XP_011527116.1:p.Pro724Leu
NM_004518.5:c.2498C>T	NP_004509.2:p.Pro833Leu
NM_172106.2:c.2528C>T	NP_742104.1:p.Pro843Leu
NM_172107.3:c.2582C>T	NP_742105.1:p.Pro861Leu
NM_172108.4:c.2489C>T	NP_742106.1:p.Pro830Leu
XM_011528810.2:c.2636C>T	XP_011527112.1:p.Pro879Leu
XM_011528811.2:c.2606C>T	XP_011527113.1:p.Pro869Leu
XM_017027841.2:c.2633C>T	XP_016883330.1:p.Pro878Leu
XM_017027842.2:c.2570C>T	XP_016883331.1:p.Pro857Leu
XM_017027843.1:c.2567C>T	XP_016883332.1:p.Pro856Leu
XM_017027844.2:c.2525C>T	XP_016883333.1:p.Pro842Leu
XM_017027845.1:c.1598C>T	XP_016883334.1:p.Pro533Leu
NM_004518.6:c.2498C>T	NP_004509.2:p.Pro833Leu
NM_172106.3:c.2528C>T	NP_742104.1:p.Pro843Leu
NM_172107.4:c.2582C>T MANE Select	NP_742105.1:p.Pro861Leu
NM_172108.5:c.2489C>T	NP_742106.1:p.Pro830Leu
NM_001382235.1:c.2636C>T	NP_001369164.1:p.Pro879Leu