Canonical Allele Identifier: CA10583878

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 242008
• ClinVar RCV Id: RCV000227131
• dbSNP Id: rs878855236
• MyVariant Identifiers: chr20:g.62046392_62046393del (hg19) ; chr20:g.63415039_63415040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415041_63415042del , CM000682.2:g.63415041_63415042del	GRCh38
NC_000020.10:g.62046394_62046395del , CM000682.1:g.62046394_62046395del	GRCh37
NC_000020.9:g.61516838_61516839del	NCBI36
NG_009004.1:g.62601_62602del
NG_009004.2:g.62601_62602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1334_1335del	ENSP00000516702.1:p.Val445GlufsTer?
ENST00000359125.7:c.1388_1389del MANE Select	ENSP00000352035.2:p.Val463GlufsTer?
ENST00000637193.1:c.785_786del	ENSP00000490734.1:p.Val262GlufsTer?
ENST00000344462.8:c.1298_1299del	ENSP00000339611.4:p.Val433GlufsTer?
ENST00000357249.6:c.956_957del	ENSP00000349789.3:p.Val319GlufsTer?
ENST00000359125.6:c.1388_1389del	ENSP00000352035.2:p.Val463GlufsTer?
ENST00000360480.7:c.1304_1305del	ENSP00000353668.3:p.Val435GlufsTer?
ENST00000370224.5:c.1304_1305del	ENSP00000359244.2:p.Val435GlufsTer?
ENST00000625514.2:c.1268_1269del	ENSP00000486040.1:p.Val423GlufsTer?
ENST00000626839.2:c.1334_1335del	ENSP00000486706.1:p.Val445GlufsTer?
ENST00000627221.2:c.448_449del
ENST00000629241.2:c.1304_1305del	ENSP00000487142.1:p.Val435GlufsTer?
ENST00000629676.2:c.1304_1305del	ENSP00000486194.1:p.Val435GlufsTer?
NM_004518.4:c.1304_1305del	NP_004509.2:p.Val435GlufsTer?
NM_172106.1:c.1334_1335del	NP_742104.1:p.Val445GlufsTer?
NM_172107.2:c.1388_1389del	NP_742105.1:p.Val463GlufsTer?
NM_172108.3:c.1298_1299del	NP_742106.1:p.Val433GlufsTer?
XM_006723787.1:c.1388_1389del	XP_006723850.1:p.Val463GlufsTer?
XM_011528807.1:c.1388_1389del	XP_011527109.1:p.Val463GlufsTer?
XM_011528808.1:c.1388_1389del	XP_011527110.1:p.Val463GlufsTer?
XM_011528809.1:c.1358_1359del	XP_011527111.1:p.Val453GlufsTer?
XM_011528810.1:c.1334_1335del	XP_011527112.1:p.Val445GlufsTer?
XM_011528811.1:c.1304_1305del	XP_011527113.1:p.Val435GlufsTer?
XM_011528812.1:c.1388_1389del	XP_011527114.1:p.Val463GlufsTer?
XM_011528813.1:c.1262_1263del	XP_011527115.1:p.Val421GlufsTer?
XM_011528814.1:c.869_870del	XP_011527116.1:p.Val290GlufsTer?
XM_011528815.1:c.1388_1389del	XP_011527117.1:p.Val463GlufsTer?
NM_004518.5:c.1304_1305del	NP_004509.2:p.Val435GlufsTer?
NM_172106.2:c.1334_1335del	NP_742104.1:p.Val445GlufsTer?
NM_172107.3:c.1388_1389del	NP_742105.1:p.Val463GlufsTer?
NM_172108.4:c.1298_1299del	NP_742106.1:p.Val433GlufsTer?
XM_011528810.2:c.1334_1335del	XP_011527112.1:p.Val445GlufsTer?
XM_011528811.2:c.1304_1305del	XP_011527113.1:p.Val435GlufsTer?
XM_017027841.2:c.1334_1335del	XP_016883330.1:p.Val445GlufsTer?
XM_017027842.2:c.1334_1335del	XP_016883331.1:p.Val445GlufsTer?
XM_017027843.1:c.1265_1266del	XP_016883332.1:p.Val422GlufsTer?
XM_017027844.2:c.1334_1335del	XP_016883333.1:p.Val445GlufsTer?
XM_017027845.1:c.296_297del	XP_016883334.1:p.Val99GlufsTer?
NM_004518.6:c.1304_1305del	NP_004509.2:p.Val435GlufsTer?
NM_172106.3:c.1334_1335del	NP_742104.1:p.Val445GlufsTer?
NM_172107.4:c.1388_1389del MANE Select	NP_742105.1:p.Val463GlufsTer?
NM_172108.5:c.1298_1299del	NP_742106.1:p.Val433GlufsTer?
NM_001382235.1:c.1334_1335del	NP_001369164.1:p.Val445GlufsTer?