Canonical Allele Identifier: CA315447

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205906
• ClinVar RCV Id: RCV000636418 ; RCV000762355 ; RCV000765494 ; RCV003315321
• dbSNP Id: rs375264483
• ExAC: 20:62046276 G / A
• gnomAD v2: 20-62046276-G-A
• gnomAD v3: 20-63414923-G-A
• gnomAD v4: 20-63414923-G-A
• COSMIC: COSM4100363 ; COSM4100364 ; COSM4100365
• MyVariant Identifiers: chr20:g.62046276G>A (hg19) ; chr20:g.63414923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414923G>A , CM000682.2:g.63414923G>A	GRCh38
NC_000020.10:g.62046276G>A , CM000682.1:g.62046276G>A	GRCh37
NC_000020.9:g.61516720G>A	NCBI36
NG_009004.1:g.62718C>T
NG_009004.2:g.62718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1451C>T	ENSP00000516702.1:p.Ala484Val
ENST00000359125.7:c.1505C>T MANE Select	ENSP00000352035.2:p.Ala502Val
ENST00000637193.1:c.902C>T	ENSP00000490734.1:p.Ala301Val
ENST00000344462.8:c.1415C>T	ENSP00000339611.4:p.Ala472Val
ENST00000357249.6:c.1073C>T	ENSP00000349789.3:p.Ala358Val
ENST00000359125.6:c.1505C>T	ENSP00000352035.2:p.Ala502Val
ENST00000360480.7:c.1421C>T	ENSP00000353668.3:p.Ala474Val
ENST00000370224.5:c.1421C>T	ENSP00000359244.2:p.Ala474Val
ENST00000625514.2:c.1385C>T	ENSP00000486040.1:p.Ala462Val
ENST00000626839.2:c.1451C>T	ENSP00000486706.1:p.Ala484Val
ENST00000627221.2:c.565C>T
ENST00000629241.2:c.1421C>T	ENSP00000487142.1:p.Ala474Val
ENST00000629318.1:c.113C>T	ENSP00000487384.1:p.Ala38Val
ENST00000629676.2:c.1421C>T	ENSP00000486194.1:p.Ala474Val
NM_004518.4:c.1421C>T	NP_004509.2:p.Ala474Val
NM_172106.1:c.1451C>T	NP_742104.1:p.Ala484Val
NM_172107.2:c.1505C>T	NP_742105.1:p.Ala502Val
NM_172108.3:c.1415C>T	NP_742106.1:p.Ala472Val
XM_006723787.1:c.1505C>T	XP_006723850.1:p.Ala502Val
XM_011528807.1:c.1505C>T	XP_011527109.1:p.Ala502Val
XM_011528808.1:c.1505C>T	XP_011527110.1:p.Ala502Val
XM_011528809.1:c.1475C>T	XP_011527111.1:p.Ala492Val
XM_011528810.1:c.1451C>T	XP_011527112.1:p.Ala484Val
XM_011528811.1:c.1421C>T	XP_011527113.1:p.Ala474Val
XM_011528812.1:c.1505C>T	XP_011527114.1:p.Ala502Val
XM_011528813.1:c.1379C>T	XP_011527115.1:p.Ala460Val
XM_011528814.1:c.986C>T	XP_011527116.1:p.Ala329Val
XM_011528815.1:c.1505C>T	XP_011527117.1:p.Ala502Val
NM_004518.5:c.1421C>T	NP_004509.2:p.Ala474Val
NM_172106.2:c.1451C>T	NP_742104.1:p.Ala484Val
NM_172107.3:c.1505C>T	NP_742105.1:p.Ala502Val
NM_172108.4:c.1415C>T	NP_742106.1:p.Ala472Val
XM_011528810.2:c.1451C>T	XP_011527112.1:p.Ala484Val
XM_011528811.2:c.1421C>T	XP_011527113.1:p.Ala474Val
XM_017027841.2:c.1451C>T	XP_016883330.1:p.Ala484Val
XM_017027842.2:c.1451C>T	XP_016883331.1:p.Ala484Val
XM_017027843.1:c.1382C>T	XP_016883332.1:p.Ala461Val
XM_017027844.2:c.1451C>T	XP_016883333.1:p.Ala484Val
XM_017027845.1:c.413C>T	XP_016883334.1:p.Ala138Val
NM_004518.6:c.1421C>T	NP_004509.2:p.Ala474Val
NM_172106.3:c.1451C>T	NP_742104.1:p.Ala484Val
NM_172107.4:c.1505C>T MANE Select	NP_742105.1:p.Ala502Val
NM_172108.5:c.1415C>T	NP_742106.1:p.Ala472Val
NM_001382235.1:c.1451C>T	NP_001369164.1:p.Ala484Val