Canonical Allele Identifier: CA1019287986

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2145733717
• gnomAD v3: 20-63442223-C-CCCA
• gnomAD v4: 20-63442223-C-CCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63442223_63442224insCCA , CM000682.2:g.63442223_63442224insCCA	GRCh38
NC_000020.10:g.62073576_62073577insCCA , CM000682.1:g.62073576_62073577insCCA	GRCh37
NC_000020.9:g.61544020_61544021insCCA	NCBI36
NG_009004.1:g.35417_35418insTGG
NG_009004.2:g.35417_35418insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.816+182_816+183insTGG	ENSP00000516702.1:n.816+182_816+183insTGG
ENST00000344425.8:c.816+182_816+183insTGG	ENSP00000345523.5:n.816+182_816+183insTGG
ENST00000359125.7:c.816+182_816+183insTGG MANE Select	ENSP00000352035.2:n.816+182_816+183insTGG
ENST00000636255.1:n.554+182_554+183insTGG
ENST00000637193.1:c.297+182_297+183insTGG	ENSP00000490734.1:n.297+182_297+183insTGG
ENST00000344425.7:c.816+182_816+183insTGG	ENSP00000345523.5:n.816+182_816+183insTGG
ENST00000344462.8:c.816+182_816+183insTGG	ENSP00000339611.4:n.816+182_816+183insTGG
ENST00000357249.6:c.474+182_474+183insTGG	ENSP00000349789.3:n.474+182_474+183insTGG
ENST00000359125.6:c.816+182_816+183insTGG	ENSP00000352035.2:n.816+182_816+183insTGG
ENST00000360480.7:c.816+182_816+183insTGG	ENSP00000353668.3:n.816+182_816+183insTGG
ENST00000370221.3:n.942+182_942+183insTGG
ENST00000370224.5:c.816+182_816+183insTGG	ENSP00000359244.2:n.816+182_816+183insTGG
ENST00000625514.2:c.816+182_816+183insTGG	ENSP00000486040.1:n.816+182_816+183insTGG
ENST00000626684.1:c.181+182_181+183insTGG
ENST00000626839.2:c.816+182_816+183insTGG	ENSP00000486706.1:n.816+182_816+183insTGG
ENST00000629241.2:c.816+182_816+183insTGG	ENSP00000487142.1:n.816+182_816+183insTGG
ENST00000629498.2:c.237+182_237+183insTGG	ENSP00000486509.1:n.237+182_237+183insTGG
ENST00000629676.2:c.816+182_816+183insTGG	ENSP00000486194.1:n.816+182_816+183insTGG
ENST00000630274.2:n.641+182_641+183insTGG
NM_004518.4:c.816+182_816+183insTGG	NP_004509.2:n.816+182_816+183insTGG
NM_172106.1:c.816+182_816+183insTGG	NP_742104.1:n.816+182_816+183insTGG
NM_172107.2:c.816+182_816+183insTGG	NP_742105.1:n.816+182_816+183insTGG
NM_172108.3:c.816+182_816+183insTGG	NP_742106.1:n.816+182_816+183insTGG
NM_172109.1:c.816+182_816+183insTGG	NP_742107.1:n.816+182_816+183insTGG
XM_006723787.1:c.816+182_816+183insTGG	XP_006723850.1:n.816+182_816+183insTGG
XM_011528807.1:c.816+182_816+183insTGG	XP_011527109.1:n.816+182_816+183insTGG
XM_011528808.1:c.816+182_816+183insTGG	XP_011527110.1:n.816+182_816+183insTGG
XM_011528809.1:c.816+182_816+183insTGG	XP_011527111.1:n.816+182_816+183insTGG
XM_011528810.1:c.816+182_816+183insTGG	XP_011527112.1:n.816+182_816+183insTGG
XM_011528811.1:c.816+182_816+183insTGG	XP_011527113.1:n.816+182_816+183insTGG
XM_011528812.1:c.816+182_816+183insTGG	XP_011527114.1:n.816+182_816+183insTGG
XM_011528813.1:c.690+2435_690+2436insTGG	XP_011527115.1:n.690+2435_690+2436insTGG
XM_011528814.1:c.297+182_297+183insTGG	XP_011527116.1:n.297+182_297+183insTGG
XM_011528815.1:c.816+182_816+183insTGG	XP_011527117.1:n.816+182_816+183insTGG
XM_011528816.1:c.816+182_816+183insTGG	XP_011527118.1:n.816+182_816+183insTGG
NM_004518.5:c.816+182_816+183insTGG	NP_004509.2:n.816+182_816+183insTGG
NM_172106.2:c.816+182_816+183insTGG	NP_742104.1:n.816+182_816+183insTGG
NM_172107.3:c.816+182_816+183insTGG	NP_742105.1:n.816+182_816+183insTGG
NM_172108.4:c.816+182_816+183insTGG	NP_742106.1:n.816+182_816+183insTGG
NM_172109.2:c.816+182_816+183insTGG	NP_742107.1:n.816+182_816+183insTGG
XM_011528810.2:c.816+182_816+183insTGG	XP_011527112.1:n.816+182_816+183insTGG
XM_011528811.2:c.816+182_816+183insTGG	XP_011527113.1:n.816+182_816+183insTGG
XM_017027841.2:c.816+182_816+183insTGG	XP_016883330.1:n.816+182_816+183insTGG
XM_017027842.2:c.816+182_816+183insTGG	XP_016883331.1:n.816+182_816+183insTGG
XM_017027843.1:c.747+182_747+183insTGG	XP_016883332.1:n.747+182_747+183insTGG
XM_017027844.2:c.816+182_816+183insTGG	XP_016883333.1:n.816+182_816+183insTGG
NM_004518.6:c.816+182_816+183insTGG	NP_004509.2:n.816+182_816+183insTGG
NM_172106.3:c.816+182_816+183insTGG	NP_742104.1:n.816+182_816+183insTGG
NM_172107.4:c.816+182_816+183insTGG MANE Select	NP_742105.1:n.816+182_816+183insTGG
NM_172108.5:c.816+182_816+183insTGG	NP_742106.1:n.816+182_816+183insTGG
NM_172109.3:c.816+182_816+183insTGG	NP_742107.1:n.816+182_816+183insTGG
NM_001382235.1:c.816+182_816+183insTGG	NP_001369164.1:n.816+182_816+183insTGG