Canonical Allele Identifier: CA636614195

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1396875139
• gnomAD v2: 20-62046239-G-A
• gnomAD v3: 20-63414886-G-A
• gnomAD v4: 20-63414886-G-A
• MyVariant Identifiers: chr20:g.62046239G>A (hg19) ; chr20:g.63414886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414886G>A , CM000682.2:g.63414886G>A	GRCh38
NC_000020.10:g.62046239G>A , CM000682.1:g.62046239G>A	GRCh37
NC_000020.9:g.61516683G>A	NCBI36
NG_009004.1:g.62755C>T
NG_009004.2:g.62755C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1471+17C>T	ENSP00000516702.1:n.1471+17C>T
ENST00000359125.7:c.1525+17C>T MANE Select	ENSP00000352035.2:n.1525+17C>T
ENST00000637193.1:c.922+17C>T	ENSP00000490734.1:n.922+17C>T
ENST00000344462.8:c.1435+17C>T	ENSP00000339611.4:n.1435+17C>T
ENST00000357249.6:c.1093+17C>T	ENSP00000349789.3:n.1093+17C>T
ENST00000359125.6:c.1525+17C>T	ENSP00000352035.2:n.1525+17C>T
ENST00000360480.7:c.1441+17C>T	ENSP00000353668.3:n.1441+17C>T
ENST00000370224.5:c.1441+17C>T	ENSP00000359244.2:n.1441+17C>T
ENST00000625514.2:c.1405+17C>T	ENSP00000486040.1:n.1405+17C>T
ENST00000626839.2:c.1471+17C>T	ENSP00000486706.1:n.1471+17C>T
ENST00000627221.2:c.585+17C>T
ENST00000629241.2:c.1441+17C>T	ENSP00000487142.1:n.1441+17C>T
ENST00000629318.1:c.133+17C>T	ENSP00000487384.1:n.133+17C>T
ENST00000629676.2:c.1441+17C>T	ENSP00000486194.1:n.1441+17C>T
NM_004518.4:c.1441+17C>T	NP_004509.2:n.1441+17C>T
NM_172106.1:c.1471+17C>T	NP_742104.1:n.1471+17C>T
NM_172107.2:c.1525+17C>T	NP_742105.1:n.1525+17C>T
NM_172108.3:c.1435+17C>T	NP_742106.1:n.1435+17C>T
XM_006723787.1:c.1525+17C>T	XP_006723850.1:n.1525+17C>T
XM_011528807.1:c.1525+17C>T	XP_011527109.1:n.1525+17C>T
XM_011528808.1:c.1525+17C>T	XP_011527110.1:n.1525+17C>T
XM_011528809.1:c.1495+17C>T	XP_011527111.1:n.1495+17C>T
XM_011528810.1:c.1471+17C>T	XP_011527112.1:n.1471+17C>T
XM_011528811.1:c.1441+17C>T	XP_011527113.1:n.1441+17C>T
XM_011528812.1:c.1525+17C>T	XP_011527114.1:n.1525+17C>T
XM_011528813.1:c.1399+17C>T	XP_011527115.1:n.1399+17C>T
XM_011528814.1:c.1006+17C>T	XP_011527116.1:n.1006+17C>T
XM_011528815.1:c.1525+17C>T	XP_011527117.1:n.1525+17C>T
NM_004518.5:c.1441+17C>T	NP_004509.2:n.1441+17C>T
NM_172106.2:c.1471+17C>T	NP_742104.1:n.1471+17C>T
NM_172107.3:c.1525+17C>T	NP_742105.1:n.1525+17C>T
NM_172108.4:c.1435+17C>T	NP_742106.1:n.1435+17C>T
XM_011528810.2:c.1471+17C>T	XP_011527112.1:n.1471+17C>T
XM_011528811.2:c.1441+17C>T	XP_011527113.1:n.1441+17C>T
XM_017027841.2:c.1471+17C>T	XP_016883330.1:n.1471+17C>T
XM_017027842.2:c.1471+17C>T	XP_016883331.1:n.1471+17C>T
XM_017027843.1:c.1402+17C>T	XP_016883332.1:n.1402+17C>T
XM_017027844.2:c.1471+17C>T	XP_016883333.1:n.1471+17C>T
XM_017027845.1:c.433+17C>T	XP_016883334.1:n.433+17C>T
NM_004518.6:c.1441+17C>T	NP_004509.2:n.1441+17C>T
NM_172106.3:c.1471+17C>T	NP_742104.1:n.1471+17C>T
NM_172107.4:c.1525+17C>T MANE Select	NP_742105.1:n.1525+17C>T
NM_172108.5:c.1435+17C>T	NP_742106.1:n.1435+17C>T
NM_001382235.1:c.1471+17C>T	NP_001369164.1:n.1471+17C>T