Canonical Allele Identifier: CA2653803593

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406490-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406490_63406491insT , CM000682.2:g.63406490_63406491insT	GRCh38
NC_000020.10:g.62037843_62037844insT , CM000682.1:g.62037843_62037844insT	GRCh37
NC_000020.9:g.61508287_61508288insT	NCBI36
NG_009004.1:g.71150_71151insA
NG_009004.2:g.71150_71151insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.*153_*154insA	ENSP00000516702.1:n.*153_*154insA
ENST00000359125.7:c.*153_*154insA MANE Select	ENSP00000352035.2:n.*153_*154insA
ENST00000637193.1:c.*153_*154insA	ENSP00000490734.1:n.*153_*154insA
ENST00000344462.8:c.*153_*154insA	ENSP00000339611.4:n.*153_*154insA
ENST00000357249.6:c.2340_2341insA	ENSP00000349789.3:n.2340_2341insA
ENST00000359125.6:c.*153_*154insA	ENSP00000352035.2:n.*153_*154insA
ENST00000360480.7:c.*153_*154insA	ENSP00000353668.3:n.*153_*154insA
ENST00000370224.5:c.2241+555_2241+556insA	ENSP00000359244.2:n.2241+555_2241+556insA
ENST00000625514.2:c.2205+555_2205+556insA	ENSP00000486040.1:n.2205+555_2205+556insA
ENST00000626839.2:c.*153_*154insA	ENSP00000486706.1:n.*153_*154insA
ENST00000629241.2:c.2133+555_2133+556insA	ENSP00000487142.1:n.2133+555_2133+556insA
ENST00000629676.2:c.1680-5648_1680-5647insA	ENSP00000486194.1:n.1680-5648_1680-5647insA
NM_004518.4:c.*153_*154insA	NP_004509.2:n.*153_*154insA
NM_172106.1:c.*153_*154insA	NP_742104.1:n.*153_*154insA
NM_172107.2:c.*153_*154insA	NP_742105.1:n.*153_*154insA
NM_172108.3:c.*153_*154insA	NP_742106.1:n.*153_*154insA
XM_006723787.1:c.*153_*154insA	XP_006723850.1:n.*153_*154insA
XM_011528807.1:c.*153_*154insA	XP_011527109.1:n.*153_*154insA
XM_011528808.1:c.*153_*154insA	XP_011527110.1:n.*153_*154insA
XM_011528809.1:c.*153_*154insA	XP_011527111.1:n.*153_*154insA
XM_011528810.1:c.*153_*154insA	XP_011527112.1:n.*153_*154insA
XM_011528811.1:c.*153_*154insA	XP_011527113.1:n.*153_*154insA
XM_011528812.1:c.*153_*154insA	XP_011527114.1:n.*153_*154insA
XM_011528813.1:c.*153_*154insA	XP_011527115.1:n.*153_*154insA
XM_011528814.1:c.*153_*154insA	XP_011527116.1:n.*153_*154insA
NM_004518.5:c.*153_*154insA	NP_004509.2:n.*153_*154insA
NM_172106.2:c.*153_*154insA	NP_742104.1:n.*153_*154insA
NM_172107.3:c.*153_*154insA	NP_742105.1:n.*153_*154insA
NM_172108.4:c.*153_*154insA	NP_742106.1:n.*153_*154insA
XM_011528810.2:c.*153_*154insA	XP_011527112.1:n.*153_*154insA
XM_011528811.2:c.*153_*154insA	XP_011527113.1:n.*153_*154insA
XM_017027841.2:c.*153_*154insA	XP_016883330.1:n.*153_*154insA
XM_017027842.2:c.*153_*154insA	XP_016883331.1:n.*153_*154insA
XM_017027843.1:c.*153_*154insA	XP_016883332.1:n.*153_*154insA
XM_017027844.2:c.*153_*154insA	XP_016883333.1:n.*153_*154insA
XM_017027845.1:c.*153_*154insA	XP_016883334.1:n.*153_*154insA
NM_004518.6:c.*153_*154insA	NP_004509.2:n.*153_*154insA
NM_172106.3:c.*153_*154insA	NP_742104.1:n.*153_*154insA
NM_172107.4:c.*153_*154insA MANE Select	NP_742105.1:n.*153_*154insA
NM_172108.5:c.*153_*154insA	NP_742106.1:n.*153_*154insA
NM_001382235.1:c.*153_*154insA	NP_001369164.1:n.*153_*154insA