Canonical Allele Identifier: CA2573054904

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1326325
• ClinVar RCV Id: RCV001786547
• dbSNP Id: rs2145547209

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414085_63414098del , CM000682.2:g.63414085_63414098del	GRCh38
NC_000020.10:g.62045438_62045451del , CM000682.1:g.62045438_62045451del	GRCh37
NC_000020.9:g.61515882_61515895del	NCBI36
NG_009004.1:g.63545_63558del
NG_009004.2:g.63545_63558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1569_1577+5del
ENST00000359125.7:c.1623_1631+5del
ENST00000637193.1:c.1020_1028+5del
ENST00000344462.8:c.1530_1538+5del
ENST00000357249.6:c.1191_1199+5del
ENST00000359125.6:c.1623_1631+5del
ENST00000360480.7:c.1539_1547+5del
ENST00000370224.5:c.1539_1547+5del
ENST00000625514.2:c.1503_1511+5del
ENST00000626839.2:c.1569_1577+5del
ENST00000629241.2:c.1539_1547+5del
ENST00000629318.1:c.231_239+5del
ENST00000629676.2:c.1539_1547+5del
NM_004518.4:c.1539_1547+5del
NM_172106.1:c.1569_1577+5del
NM_172107.2:c.1623_1631+5del
NM_172108.3:c.1530_1538+5del
XM_006723787.1:c.1623_1631+5del
XM_011528807.1:c.1623_1631+5del
XM_011528808.1:c.1620_1628+5del
XM_011528809.1:c.1593_1601+5del
XM_011528810.1:c.1569_1577+5del
XM_011528811.1:c.1539_1547+5del
XM_011528812.1:c.1620_1628+5del
XM_011528813.1:c.1497_1505+5del
XM_011528814.1:c.1104_1112+5del
XM_011528815.1:c.1623_1631+5del
NM_004518.5:c.1539_1547+5del
NM_172106.2:c.1569_1577+5del
NM_172107.3:c.1623_1631+5del
NM_172108.4:c.1530_1538+5del
XM_011528810.2:c.1569_1577+5del
XM_011528811.2:c.1539_1547+5del
XM_017027841.2:c.1566_1574+5del
XM_017027842.2:c.1569_1577+5del
XM_017027843.1:c.1500_1508+5del
XM_017027844.2:c.1566_1574+5del
XM_017027845.1:c.531_539+5del
NM_004518.6:c.1539_1547+5del
NM_172106.3:c.1569_1577+5del
NM_172107.4:c.1623_1631+5del
NM_172108.5:c.1530_1538+5del
NM_001382235.1:c.1569_1577+5del