Canonical Allele Identifier: CA409645761

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045535G>C (hg19) ; chr20:g.63414182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414182G>C , CM000682.2:g.63414182G>C	GRCh38
NC_000020.10:g.62045535G>C , CM000682.1:g.62045535G>C	GRCh37
NC_000020.9:g.61515979G>C	NCBI36
NG_009004.1:g.63459C>G
NG_009004.2:g.63459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1483C>G	ENSP00000516702.1:p.Pro495Ala
ENST00000359125.7:c.1537C>G MANE Select	ENSP00000352035.2:p.Pro513Ala
ENST00000637193.1:c.934C>G	ENSP00000490734.1:p.Pro312Ala
ENST00000344462.8:c.1444C>G	ENSP00000339611.4:p.Pro482Ala
ENST00000357249.6:c.1105C>G	ENSP00000349789.3:p.Pro369Ala
ENST00000359125.6:c.1537C>G	ENSP00000352035.2:p.Pro513Ala
ENST00000360480.7:c.1453C>G	ENSP00000353668.3:p.Pro485Ala
ENST00000370224.5:c.1453C>G	ENSP00000359244.2:p.Pro485Ala
ENST00000625514.2:c.1417C>G	ENSP00000486040.1:p.Pro473Ala
ENST00000626839.2:c.1483C>G	ENSP00000486706.1:p.Pro495Ala
ENST00000627221.2:c.594C>G
ENST00000629241.2:c.1453C>G	ENSP00000487142.1:p.Pro485Ala
ENST00000629318.1:c.145C>G	ENSP00000487384.1:p.Pro49Ala
ENST00000629676.2:c.1453C>G	ENSP00000486194.1:p.Pro485Ala
NM_004518.4:c.1453C>G	NP_004509.2:p.Pro485Ala
NM_172106.1:c.1483C>G	NP_742104.1:p.Pro495Ala
NM_172107.2:c.1537C>G	NP_742105.1:p.Pro513Ala
NM_172108.3:c.1444C>G	NP_742106.1:p.Pro482Ala
XM_006723787.1:c.1537C>G	XP_006723850.1:p.Pro513Ala
XM_011528807.1:c.1537C>G	XP_011527109.1:p.Pro513Ala
XM_011528808.1:c.1534C>G	XP_011527110.1:p.Pro512Ala
XM_011528809.1:c.1507C>G	XP_011527111.1:p.Pro503Ala
XM_011528810.1:c.1483C>G	XP_011527112.1:p.Pro495Ala
XM_011528811.1:c.1453C>G	XP_011527113.1:p.Pro485Ala
XM_011528812.1:c.1534C>G	XP_011527114.1:p.Pro512Ala
XM_011528813.1:c.1411C>G	XP_011527115.1:p.Pro471Ala
XM_011528814.1:c.1018C>G	XP_011527116.1:p.Pro340Ala
XM_011528815.1:c.1537C>G	XP_011527117.1:p.Pro513Ala
NM_004518.5:c.1453C>G	NP_004509.2:p.Pro485Ala
NM_172106.2:c.1483C>G	NP_742104.1:p.Pro495Ala
NM_172107.3:c.1537C>G	NP_742105.1:p.Pro513Ala
NM_172108.4:c.1444C>G	NP_742106.1:p.Pro482Ala
XM_011528810.2:c.1483C>G	XP_011527112.1:p.Pro495Ala
XM_011528811.2:c.1453C>G	XP_011527113.1:p.Pro485Ala
XM_017027841.2:c.1480C>G	XP_016883330.1:p.Pro494Ala
XM_017027842.2:c.1483C>G	XP_016883331.1:p.Pro495Ala
XM_017027843.1:c.1414C>G	XP_016883332.1:p.Pro472Ala
XM_017027844.2:c.1480C>G	XP_016883333.1:p.Pro494Ala
XM_017027845.1:c.445C>G	XP_016883334.1:p.Pro149Ala
NM_004518.6:c.1453C>G	NP_004509.2:p.Pro485Ala
NM_172106.3:c.1483C>G	NP_742104.1:p.Pro495Ala
NM_172107.4:c.1537C>G MANE Select	NP_742105.1:p.Pro513Ala
NM_172108.5:c.1444C>G	NP_742106.1:p.Pro482Ala
NM_001382235.1:c.1483C>G	NP_001369164.1:p.Pro495Ala