Canonical Allele Identifier: CA317431105

Gene: KCNQ2

Linked Data

• dbSNP Id: rs562511859
• MyVariant Identifiers: chr20:g.62046412A>C (hg19) ; chr20:g.63415059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415059A>C , CM000682.2:g.63415059A>C	GRCh38
NC_000020.10:g.62046412A>C , CM000682.1:g.62046412A>C	GRCh37
NC_000020.9:g.61516856A>C	NCBI36
NG_009004.1:g.62582T>G
NG_009004.2:g.62582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1315T>G	ENSP00000516702.1:p.Ser439Ala
ENST00000359125.7:c.1369T>G MANE Select	ENSP00000352035.2:p.Ser457Ala
ENST00000637193.1:c.766T>G	ENSP00000490734.1:p.Ser256Ala
ENST00000344462.8:c.1279T>G	ENSP00000339611.4:p.Ser427Ala
ENST00000357249.6:c.937T>G	ENSP00000349789.3:p.Ser313Ala
ENST00000359125.6:c.1369T>G	ENSP00000352035.2:p.Ser457Ala
ENST00000360480.7:c.1285T>G	ENSP00000353668.3:p.Ser429Ala
ENST00000370224.5:c.1285T>G	ENSP00000359244.2:p.Ser429Ala
ENST00000625514.2:c.1249T>G	ENSP00000486040.1:p.Ser417Ala
ENST00000626839.2:c.1315T>G	ENSP00000486706.1:p.Ser439Ala
ENST00000627221.2:c.429T>G
ENST00000629241.2:c.1285T>G	ENSP00000487142.1:p.Ser429Ala
ENST00000629676.2:c.1285T>G	ENSP00000486194.1:p.Ser429Ala
NM_004518.4:c.1285T>G	NP_004509.2:p.Ser429Ala
NM_172106.1:c.1315T>G	NP_742104.1:p.Ser439Ala
NM_172107.2:c.1369T>G	NP_742105.1:p.Ser457Ala
NM_172108.3:c.1279T>G	NP_742106.1:p.Ser427Ala
XM_006723787.1:c.1369T>G	XP_006723850.1:p.Ser457Ala
XM_011528807.1:c.1369T>G	XP_011527109.1:p.Ser457Ala
XM_011528808.1:c.1369T>G	XP_011527110.1:p.Ser457Ala
XM_011528809.1:c.1339T>G	XP_011527111.1:p.Ser447Ala
XM_011528810.1:c.1315T>G	XP_011527112.1:p.Ser439Ala
XM_011528811.1:c.1285T>G	XP_011527113.1:p.Ser429Ala
XM_011528812.1:c.1369T>G	XP_011527114.1:p.Ser457Ala
XM_011528813.1:c.1243T>G	XP_011527115.1:p.Ser415Ala
XM_011528814.1:c.850T>G	XP_011527116.1:p.Ser284Ala
XM_011528815.1:c.1369T>G	XP_011527117.1:p.Ser457Ala
NM_004518.5:c.1285T>G	NP_004509.2:p.Ser429Ala
NM_172106.2:c.1315T>G	NP_742104.1:p.Ser439Ala
NM_172107.3:c.1369T>G	NP_742105.1:p.Ser457Ala
NM_172108.4:c.1279T>G	NP_742106.1:p.Ser427Ala
XM_011528810.2:c.1315T>G	XP_011527112.1:p.Ser439Ala
XM_011528811.2:c.1285T>G	XP_011527113.1:p.Ser429Ala
XM_017027841.2:c.1315T>G	XP_016883330.1:p.Ser439Ala
XM_017027842.2:c.1315T>G	XP_016883331.1:p.Ser439Ala
XM_017027843.1:c.1246T>G	XP_016883332.1:p.Ser416Ala
XM_017027844.2:c.1315T>G	XP_016883333.1:p.Ser439Ala
XM_017027845.1:c.277T>G	XP_016883334.1:p.Ser93Ala
NM_004518.6:c.1285T>G	NP_004509.2:p.Ser429Ala
NM_172106.3:c.1315T>G	NP_742104.1:p.Ser439Ala
NM_172107.4:c.1369T>G MANE Select	NP_742105.1:p.Ser457Ala
NM_172108.5:c.1279T>G	NP_742106.1:p.Ser427Ala
NM_001382235.1:c.1315T>G	NP_001369164.1:p.Ser439Ala