Canonical Allele Identifier: CA409639218

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407267-G-A
• MyVariant Identifiers: chr20:g.62038620G>A (hg19) ; chr20:g.63407267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407267G>A , CM000682.2:g.63407267G>A	GRCh38
NC_000020.10:g.62038620G>A , CM000682.1:g.62038620G>A	GRCh37
NC_000020.9:g.61509064G>A	NCBI36
NG_009004.1:g.70374C>T
NG_009004.2:g.70374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2050C>T	ENSP00000516702.1:p.Pro684Ser
ENST00000359125.7:c.1996C>T MANE Select	ENSP00000352035.2:p.Pro666Ser
ENST00000637193.1:c.1393C>T	ENSP00000490734.1:p.Pro465Ser
ENST00000344462.8:c.1903C>T	ENSP00000339611.4:p.Pro635Ser
ENST00000357249.6:c.1564C>T	ENSP00000349789.3:p.Pro522Ser
ENST00000359125.6:c.1996C>T	ENSP00000352035.2:p.Pro666Ser
ENST00000360480.7:c.1912C>T	ENSP00000353668.3:p.Pro638Ser
ENST00000370224.5:c.2020C>T	ENSP00000359244.2:p.Pro674Ser
ENST00000625514.2:c.1984C>T	ENSP00000486040.1:p.Pro662Ser
ENST00000626839.2:c.1942C>T	ENSP00000486706.1:p.Pro648Ser
ENST00000629241.2:c.1912C>T	ENSP00000487142.1:p.Pro638Ser
ENST00000629676.2:c.1679+6183C>T	ENSP00000486194.1:n.1679+6183C>T
NM_004518.4:c.1912C>T	NP_004509.2:p.Pro638Ser
NM_172106.1:c.1942C>T	NP_742104.1:p.Pro648Ser
NM_172107.2:c.1996C>T	NP_742105.1:p.Pro666Ser
NM_172108.3:c.1903C>T	NP_742106.1:p.Pro635Ser
XM_006723787.1:c.2038C>T	XP_006723850.1:p.Pro680Ser
XM_011528807.1:c.2104C>T	XP_011527109.1:p.Pro702Ser
XM_011528808.1:c.2101C>T	XP_011527110.1:p.Pro701Ser
XM_011528809.1:c.2074C>T	XP_011527111.1:p.Pro692Ser
XM_011528810.1:c.2050C>T	XP_011527112.1:p.Pro684Ser
XM_011528811.1:c.2020C>T	XP_011527113.1:p.Pro674Ser
XM_011528812.1:c.1993C>T	XP_011527114.1:p.Pro665Ser
XM_011528813.1:c.1978C>T	XP_011527115.1:p.Pro660Ser
XM_011528814.1:c.1585C>T	XP_011527116.1:p.Pro529Ser
NM_004518.5:c.1912C>T	NP_004509.2:p.Pro638Ser
NM_172106.2:c.1942C>T	NP_742104.1:p.Pro648Ser
NM_172107.3:c.1996C>T	NP_742105.1:p.Pro666Ser
NM_172108.4:c.1903C>T	NP_742106.1:p.Pro635Ser
XM_011528810.2:c.2050C>T	XP_011527112.1:p.Pro684Ser
XM_011528811.2:c.2020C>T	XP_011527113.1:p.Pro674Ser
XM_017027841.2:c.2047C>T	XP_016883330.1:p.Pro683Ser
XM_017027842.2:c.1984C>T	XP_016883331.1:p.Pro662Ser
XM_017027843.1:c.1981C>T	XP_016883332.1:p.Pro661Ser
XM_017027844.2:c.1939C>T	XP_016883333.1:p.Pro647Ser
XM_017027845.1:c.1012C>T	XP_016883334.1:p.Pro338Ser
NM_004518.6:c.1912C>T	NP_004509.2:p.Pro638Ser
NM_172106.3:c.1942C>T	NP_742104.1:p.Pro648Ser
NM_172107.4:c.1996C>T MANE Select	NP_742105.1:p.Pro666Ser
NM_172108.5:c.1903C>T	NP_742106.1:p.Pro635Ser
NM_001382235.1:c.2050C>T	NP_001369164.1:p.Pro684Ser