Canonical Allele Identifier: CA16620962

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 418894
• ClinVar RCV Id: RCV000479554 ; RCV001003633 ; RCV001389017 ; RCV003335347
• dbSNP Id: rs1555850842
• gnomAD v4: 20-63407136-A-AG
• MyVariant Identifiers: chr20:g.62038490dupG (hg19) ; chr20:g.62038489_62038490insG (hg19) ; chr20:g.63407137dupG (hg38) ; chr20:g.63407136_63407137insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407141dup , CM000682.2:g.63407141dup	GRCh38
NC_000020.10:g.62038494dup , CM000682.1:g.62038494dup	GRCh37
NC_000020.9:g.61508938dup	NCBI36
NG_009004.1:g.70504dup
NG_009004.2:g.70504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2180dup	ENSP00000516702.1:p.Val728CysfsTer?
ENST00000359125.7:c.2126dup MANE Select	ENSP00000352035.2:p.Val710CysfsTer?
ENST00000637193.1:c.1523dup	ENSP00000490734.1:p.Val509CysfsTer?
ENST00000344462.8:c.2033dup	ENSP00000339611.4:p.Val679CysfsTer?
ENST00000357249.6:c.1694dup	ENSP00000349789.3:p.Val566CysfsTer?
ENST00000359125.6:c.2126dup	ENSP00000352035.2:p.Val710CysfsTer?
ENST00000360480.7:c.2042dup	ENSP00000353668.3:p.Val682CysfsTer?
ENST00000370224.5:c.2150dup	ENSP00000359244.2:p.Val718CysfsTer?
ENST00000625514.2:c.2114dup	ENSP00000486040.1:p.Val706CysfsTer?
ENST00000626839.2:c.2072dup	ENSP00000486706.1:p.Val692CysfsTer?
ENST00000629241.2:c.2042dup	ENSP00000487142.1:p.Val682CysfsTer?
ENST00000629676.2:c.1680-6294dup	ENSP00000486194.1:n.1680-6294dup
NM_004518.4:c.2042dup	NP_004509.2:p.Val682CysfsTer?
NM_172106.1:c.2072dup	NP_742104.1:p.Val692CysfsTer?
NM_172107.2:c.2126dup	NP_742105.1:p.Val710CysfsTer?
NM_172108.3:c.2033dup	NP_742106.1:p.Val679CysfsTer?
XM_006723787.1:c.2168dup	XP_006723850.1:p.Val724CysfsTer?
XM_011528807.1:c.2234dup	XP_011527109.1:p.Val746CysfsTer?
XM_011528808.1:c.2231dup	XP_011527110.1:p.Val745CysfsTer?
XM_011528809.1:c.2204dup	XP_011527111.1:p.Val736CysfsTer?
XM_011528810.1:c.2180dup	XP_011527112.1:p.Val728CysfsTer?
XM_011528811.1:c.2150dup	XP_011527113.1:p.Val718CysfsTer?
XM_011528812.1:c.2123dup	XP_011527114.1:p.Val709CysfsTer?
XM_011528813.1:c.2108dup	XP_011527115.1:p.Val704CysfsTer?
XM_011528814.1:c.1715dup	XP_011527116.1:p.Val573CysfsTer?
NM_004518.5:c.2042dup	NP_004509.2:p.Val682CysfsTer?
NM_172106.2:c.2072dup	NP_742104.1:p.Val692CysfsTer?
NM_172107.3:c.2126dup	NP_742105.1:p.Val710CysfsTer?
NM_172108.4:c.2033dup	NP_742106.1:p.Val679CysfsTer?
XM_011528810.2:c.2180dup	XP_011527112.1:p.Val728CysfsTer?
XM_011528811.2:c.2150dup	XP_011527113.1:p.Val718CysfsTer?
XM_017027841.2:c.2177dup	XP_016883330.1:p.Val727CysfsTer?
XM_017027842.2:c.2114dup	XP_016883331.1:p.Val706CysfsTer?
XM_017027843.1:c.2111dup	XP_016883332.1:p.Val705CysfsTer?
XM_017027844.2:c.2069dup	XP_016883333.1:p.Val691CysfsTer?
XM_017027845.1:c.1142dup	XP_016883334.1:p.Val382CysfsTer?
NM_004518.6:c.2042dup	NP_004509.2:p.Val682CysfsTer?
NM_172106.3:c.2072dup	NP_742104.1:p.Val692CysfsTer?
NM_172107.4:c.2126dup MANE Select	NP_742105.1:p.Val710CysfsTer?
NM_172108.5:c.2033dup	NP_742106.1:p.Val679CysfsTer?
NM_001382235.1:c.2180dup	NP_001369164.1:p.Val728CysfsTer?