Canonical Allele Identifier: CA2653807702

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63433800-CGGCGGTACCTGTACATGGGCACGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433802_63433826del , CM000682.2:g.63433802_63433826del	GRCh38
NC_000020.10:g.62065155_62065179del , CM000682.1:g.62065155_62065179del	GRCh37
NC_000020.9:g.61535599_61535623del	NCBI36
NG_009004.1:g.43816_43840del
NG_009004.2:g.43816_43840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1102_1118+8del
ENST00000344425.8:c.1102_1126del	ENSP00000345523.5:p.Thr368AlafsTer?
ENST00000359125.7:c.1102_1118+8del
ENST00000635864.1:n.17_33+8del
ENST00000636255.1:n.840_864del
ENST00000637193.1:c.583_599+8del
ENST00000637890.1:n.52_68+8del
ENST00000344425.7:c.1102_1126del	ENSP00000345523.5:p.Thr368AlafsTer?
ENST00000344462.8:c.1102_1118+8del
ENST00000357249.6:c.760_776+8del
ENST00000359125.6:c.1102_1118+8del
ENST00000360480.7:c.1102_1118+8del
ENST00000370221.3:n.1228_1244+8del
ENST00000370224.5:c.1102_1118+8del
ENST00000482957.1:n.453_477del
ENST00000625514.2:c.1102_1118+8del
ENST00000626839.2:c.1102_1118+8del
ENST00000627221.2:c.246_262+8del
ENST00000629241.2:c.1102_1118+8del
ENST00000629498.2:c.575_599del	ENSP00000486509.1:n.575_599del
ENST00000629676.2:c.1102_1118+8del
NM_004518.4:c.1102_1118+8del
NM_172106.1:c.1102_1118+8del
NM_172107.2:c.1102_1118+8del
NM_172108.3:c.1102_1118+8del
NM_172109.1:c.1102_1126del	NP_742107.1:p.Thr368AlafsTer?
XM_006723787.1:c.1102_1118+8del
XM_011528807.1:c.1102_1118+8del
XM_011528808.1:c.1102_1118+8del
XM_011528809.1:c.1102_1118+8del
XM_011528810.1:c.1102_1118+8del
XM_011528811.1:c.1102_1118+8del
XM_011528812.1:c.1102_1118+8del
XM_011528813.1:c.976_992+8del
XM_011528814.1:c.583_599+8del
XM_011528815.1:c.1102_1118+8del
NM_004518.5:c.1102_1118+8del
NM_172106.2:c.1102_1118+8del
NM_172107.3:c.1102_1118+8del
NM_172108.4:c.1102_1118+8del
NM_172109.2:c.1102_1126del	NP_742107.1:p.Thr368AlafsTer?
XM_011528810.2:c.1102_1118+8del
XM_011528811.2:c.1102_1118+8del
XM_017027841.2:c.1102_1118+8del
XM_017027842.2:c.1102_1118+8del
XM_017027843.1:c.1033_1049+8del
XM_017027844.2:c.1102_1118+8del
NM_004518.6:c.1102_1118+8del
NM_172106.3:c.1102_1118+8del
NM_172107.4:c.1102_1118+8del
NM_172108.5:c.1102_1118+8del
NM_172109.3:c.1102_1126del	NP_742107.1:p.Thr368AlafsTer?
NM_001382235.1:c.1102_1118+8del