Canonical Allele Identifier: CA511339539

Gene: KCNQ2

Linked Data

• dbSNP Id: rs866315162
• gnomAD v2: 20-62038624-C-G
• gnomAD v3: 20-63407271-C-G
• gnomAD v4: 20-63407271-C-G
• MyVariant Identifiers: chr20:g.62038624C>G (hg19) ; chr20:g.63407271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407271C>G , CM000682.2:g.63407271C>G	GRCh38
NC_000020.10:g.62038624C>G , CM000682.1:g.62038624C>G	GRCh37
NC_000020.9:g.61509068C>G	NCBI36
NG_009004.1:g.70370G>C
NG_009004.2:g.70370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2046G>C	ENSP00000516702.1:p.Pro682=
ENST00000359125.7:c.1992G>C MANE Select	ENSP00000352035.2:p.Pro664=
ENST00000637193.1:c.1389G>C	ENSP00000490734.1:p.Pro463=
ENST00000344462.8:c.1899G>C	ENSP00000339611.4:p.Pro633=
ENST00000357249.6:c.1560G>C	ENSP00000349789.3:p.Pro520=
ENST00000359125.6:c.1992G>C	ENSP00000352035.2:p.Pro664=
ENST00000360480.7:c.1908G>C	ENSP00000353668.3:p.Pro636=
ENST00000370224.5:c.2016G>C	ENSP00000359244.2:p.Pro672=
ENST00000625514.2:c.1980G>C	ENSP00000486040.1:p.Pro660=
ENST00000626839.2:c.1938G>C	ENSP00000486706.1:p.Pro646=
ENST00000629241.2:c.1908G>C	ENSP00000487142.1:p.Pro636=
ENST00000629676.2:c.1679+6179G>C	ENSP00000486194.1:n.1679+6179G>C
NM_004518.4:c.1908G>C	NP_004509.2:p.Pro636=
NM_172106.1:c.1938G>C	NP_742104.1:p.Pro646=
NM_172107.2:c.1992G>C	NP_742105.1:p.Pro664=
NM_172108.3:c.1899G>C	NP_742106.1:p.Pro633=
XM_006723787.1:c.2034G>C	XP_006723850.1:p.Pro678=
XM_011528807.1:c.2100G>C	XP_011527109.1:p.Pro700=
XM_011528808.1:c.2097G>C	XP_011527110.1:p.Pro699=
XM_011528809.1:c.2070G>C	XP_011527111.1:p.Pro690=
XM_011528810.1:c.2046G>C	XP_011527112.1:p.Pro682=
XM_011528811.1:c.2016G>C	XP_011527113.1:p.Pro672=
XM_011528812.1:c.1989G>C	XP_011527114.1:p.Pro663=
XM_011528813.1:c.1974G>C	XP_011527115.1:p.Pro658=
XM_011528814.1:c.1581G>C	XP_011527116.1:p.Pro527=
NM_004518.5:c.1908G>C	NP_004509.2:p.Pro636=
NM_172106.2:c.1938G>C	NP_742104.1:p.Pro646=
NM_172107.3:c.1992G>C	NP_742105.1:p.Pro664=
NM_172108.4:c.1899G>C	NP_742106.1:p.Pro633=
XM_011528810.2:c.2046G>C	XP_011527112.1:p.Pro682=
XM_011528811.2:c.2016G>C	XP_011527113.1:p.Pro672=
XM_017027841.2:c.2043G>C	XP_016883330.1:p.Pro681=
XM_017027842.2:c.1980G>C	XP_016883331.1:p.Pro660=
XM_017027843.1:c.1977G>C	XP_016883332.1:p.Pro659=
XM_017027844.2:c.1935G>C	XP_016883333.1:p.Pro645=
XM_017027845.1:c.1008G>C	XP_016883334.1:p.Pro336=
NM_004518.6:c.1908G>C	NP_004509.2:p.Pro636=
NM_172106.3:c.1938G>C	NP_742104.1:p.Pro646=
NM_172107.4:c.1992G>C MANE Select	NP_742105.1:p.Pro664=
NM_172108.5:c.1899G>C	NP_742106.1:p.Pro633=
NM_001382235.1:c.2046G>C	NP_001369164.1:p.Pro682=