Canonical Allele Identifier: CA409638949

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407141-G-T
• MyVariant Identifiers: chr20:g.62038494G>T (hg19) ; chr20:g.63407141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407141G>T , CM000682.2:g.63407141G>T	GRCh38
NC_000020.10:g.62038494G>T , CM000682.1:g.62038494G>T	GRCh37
NC_000020.9:g.61508938G>T	NCBI36
NG_009004.1:g.70500C>A
NG_009004.2:g.70500C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2176C>A	ENSP00000516702.1:p.Pro726Thr
ENST00000359125.7:c.2122C>A MANE Select	ENSP00000352035.2:p.Pro708Thr
ENST00000637193.1:c.1519C>A	ENSP00000490734.1:p.Pro507Thr
ENST00000344462.8:c.2029C>A	ENSP00000339611.4:p.Pro677Thr
ENST00000357249.6:c.1690C>A	ENSP00000349789.3:p.Pro564Thr
ENST00000359125.6:c.2122C>A	ENSP00000352035.2:p.Pro708Thr
ENST00000360480.7:c.2038C>A	ENSP00000353668.3:p.Pro680Thr
ENST00000370224.5:c.2146C>A	ENSP00000359244.2:p.Pro716Thr
ENST00000625514.2:c.2110C>A	ENSP00000486040.1:p.Pro704Thr
ENST00000626839.2:c.2068C>A	ENSP00000486706.1:p.Pro690Thr
ENST00000629241.2:c.2038C>A	ENSP00000487142.1:p.Pro680Thr
ENST00000629676.2:c.1680-6298C>A	ENSP00000486194.1:n.1680-6298C>A
NM_004518.4:c.2038C>A	NP_004509.2:p.Pro680Thr
NM_172106.1:c.2068C>A	NP_742104.1:p.Pro690Thr
NM_172107.2:c.2122C>A	NP_742105.1:p.Pro708Thr
NM_172108.3:c.2029C>A	NP_742106.1:p.Pro677Thr
XM_006723787.1:c.2164C>A	XP_006723850.1:p.Pro722Thr
XM_011528807.1:c.2230C>A	XP_011527109.1:p.Pro744Thr
XM_011528808.1:c.2227C>A	XP_011527110.1:p.Pro743Thr
XM_011528809.1:c.2200C>A	XP_011527111.1:p.Pro734Thr
XM_011528810.1:c.2176C>A	XP_011527112.1:p.Pro726Thr
XM_011528811.1:c.2146C>A	XP_011527113.1:p.Pro716Thr
XM_011528812.1:c.2119C>A	XP_011527114.1:p.Pro707Thr
XM_011528813.1:c.2104C>A	XP_011527115.1:p.Pro702Thr
XM_011528814.1:c.1711C>A	XP_011527116.1:p.Pro571Thr
NM_004518.5:c.2038C>A	NP_004509.2:p.Pro680Thr
NM_172106.2:c.2068C>A	NP_742104.1:p.Pro690Thr
NM_172107.3:c.2122C>A	NP_742105.1:p.Pro708Thr
NM_172108.4:c.2029C>A	NP_742106.1:p.Pro677Thr
XM_011528810.2:c.2176C>A	XP_011527112.1:p.Pro726Thr
XM_011528811.2:c.2146C>A	XP_011527113.1:p.Pro716Thr
XM_017027841.2:c.2173C>A	XP_016883330.1:p.Pro725Thr
XM_017027842.2:c.2110C>A	XP_016883331.1:p.Pro704Thr
XM_017027843.1:c.2107C>A	XP_016883332.1:p.Pro703Thr
XM_017027844.2:c.2065C>A	XP_016883333.1:p.Pro689Thr
XM_017027845.1:c.1138C>A	XP_016883334.1:p.Pro380Thr
NM_004518.6:c.2038C>A	NP_004509.2:p.Pro680Thr
NM_172106.3:c.2068C>A	NP_742104.1:p.Pro690Thr
NM_172107.4:c.2122C>A MANE Select	NP_742105.1:p.Pro708Thr
NM_172108.5:c.2029C>A	NP_742106.1:p.Pro677Thr
NM_001382235.1:c.2176C>A	NP_001369164.1:p.Pro726Thr