Canonical Allele Identifier: CA409639014

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 3025873
• ClinVar RCV Id: RCV003885261
• dbSNP Id: rs1398433237
• gnomAD v2: 20-62038526-C-A
• gnomAD v4: 20-63407173-C-A
• MyVariant Identifiers: chr20:g.62038526C>A (hg19) ; chr20:g.63407173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407173C>A , CM000682.2:g.63407173C>A	GRCh38
NC_000020.10:g.62038526C>A , CM000682.1:g.62038526C>A	GRCh37
NC_000020.9:g.61508970C>A	NCBI36
NG_009004.1:g.70468G>T
NG_009004.2:g.70468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2144G>T	ENSP00000516702.1:p.Gly715Val
ENST00000359125.7:c.2090G>T MANE Select	ENSP00000352035.2:p.Gly697Val
ENST00000637193.1:c.1487G>T	ENSP00000490734.1:p.Gly496Val
ENST00000344462.8:c.1997G>T	ENSP00000339611.4:p.Gly666Val
ENST00000357249.6:c.1658G>T	ENSP00000349789.3:p.Gly553Val
ENST00000359125.6:c.2090G>T	ENSP00000352035.2:p.Gly697Val
ENST00000360480.7:c.2006G>T	ENSP00000353668.3:p.Gly669Val
ENST00000370224.5:c.2114G>T	ENSP00000359244.2:p.Gly705Val
ENST00000625514.2:c.2078G>T	ENSP00000486040.1:p.Gly693Val
ENST00000626839.2:c.2036G>T	ENSP00000486706.1:p.Gly679Val
ENST00000629241.2:c.2006G>T	ENSP00000487142.1:p.Gly669Val
ENST00000629676.2:c.1679+6277G>T	ENSP00000486194.1:n.1679+6277G>T
NM_004518.4:c.2006G>T	NP_004509.2:p.Gly669Val
NM_172106.1:c.2036G>T	NP_742104.1:p.Gly679Val
NM_172107.2:c.2090G>T	NP_742105.1:p.Gly697Val
NM_172108.3:c.1997G>T	NP_742106.1:p.Gly666Val
XM_006723787.1:c.2132G>T	XP_006723850.1:p.Gly711Val
XM_011528807.1:c.2198G>T	XP_011527109.1:p.Gly733Val
XM_011528808.1:c.2195G>T	XP_011527110.1:p.Gly732Val
XM_011528809.1:c.2168G>T	XP_011527111.1:p.Gly723Val
XM_011528810.1:c.2144G>T	XP_011527112.1:p.Gly715Val
XM_011528811.1:c.2114G>T	XP_011527113.1:p.Gly705Val
XM_011528812.1:c.2087G>T	XP_011527114.1:p.Gly696Val
XM_011528813.1:c.2072G>T	XP_011527115.1:p.Gly691Val
XM_011528814.1:c.1679G>T	XP_011527116.1:p.Gly560Val
NM_004518.5:c.2006G>T	NP_004509.2:p.Gly669Val
NM_172106.2:c.2036G>T	NP_742104.1:p.Gly679Val
NM_172107.3:c.2090G>T	NP_742105.1:p.Gly697Val
NM_172108.4:c.1997G>T	NP_742106.1:p.Gly666Val
XM_011528810.2:c.2144G>T	XP_011527112.1:p.Gly715Val
XM_011528811.2:c.2114G>T	XP_011527113.1:p.Gly705Val
XM_017027841.2:c.2141G>T	XP_016883330.1:p.Gly714Val
XM_017027842.2:c.2078G>T	XP_016883331.1:p.Gly693Val
XM_017027843.1:c.2075G>T	XP_016883332.1:p.Gly692Val
XM_017027844.2:c.2033G>T	XP_016883333.1:p.Gly678Val
XM_017027845.1:c.1106G>T	XP_016883334.1:p.Gly369Val
NM_004518.6:c.2006G>T	NP_004509.2:p.Gly669Val
NM_172106.3:c.2036G>T	NP_742104.1:p.Gly679Val
NM_172107.4:c.2090G>T MANE Select	NP_742105.1:p.Gly697Val
NM_172108.5:c.1997G>T	NP_742106.1:p.Gly666Val
NM_001382235.1:c.2144G>T	NP_001369164.1:p.Gly715Val