Canonical Allele Identifier: CA317421967

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1019485379
• MyVariant Identifiers: chr20:g.62038329T>G (hg19) ; chr20:g.63406976T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406976T>G , CM000682.2:g.63406976T>G	GRCh38
NC_000020.10:g.62038329T>G , CM000682.1:g.62038329T>G	GRCh37
NC_000020.9:g.61508773T>G	NCBI36
NG_009004.1:g.70665A>C
NG_009004.2:g.70665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2341A>C	ENSP00000516702.1:p.Met781Leu
ENST00000359125.7:c.2287A>C MANE Select	ENSP00000352035.2:p.Met763Leu
ENST00000637193.1:c.1684A>C	ENSP00000490734.1:p.Met562Leu
ENST00000344462.8:c.2194A>C	ENSP00000339611.4:p.Met732Leu
ENST00000357249.6:c.1855A>C	ENSP00000349789.3:p.Met619Leu
ENST00000359125.6:c.2287A>C	ENSP00000352035.2:p.Met763Leu
ENST00000360480.7:c.2203A>C	ENSP00000353668.3:p.Met735Leu
ENST00000370224.5:c.2241+70A>C	ENSP00000359244.2:n.2241+70A>C
ENST00000625514.2:c.2205+70A>C	ENSP00000486040.1:n.2205+70A>C
ENST00000626839.2:c.2233A>C	ENSP00000486706.1:p.Met745Leu
ENST00000629241.2:c.2133+70A>C	ENSP00000487142.1:n.2133+70A>C
ENST00000629676.2:c.1680-6133A>C	ENSP00000486194.1:n.1680-6133A>C
NM_004518.4:c.2203A>C	NP_004509.2:p.Met735Leu
NM_172106.1:c.2233A>C	NP_742104.1:p.Met745Leu
NM_172107.2:c.2287A>C	NP_742105.1:p.Met763Leu
NM_172108.3:c.2194A>C	NP_742106.1:p.Met732Leu
XM_006723787.1:c.2329A>C	XP_006723850.1:p.Met777Leu
XM_011528807.1:c.2395A>C	XP_011527109.1:p.Met799Leu
XM_011528808.1:c.2392A>C	XP_011527110.1:p.Met798Leu
XM_011528809.1:c.2365A>C	XP_011527111.1:p.Met789Leu
XM_011528810.1:c.2341A>C	XP_011527112.1:p.Met781Leu
XM_011528811.1:c.2311A>C	XP_011527113.1:p.Met771Leu
XM_011528812.1:c.2284A>C	XP_011527114.1:p.Met762Leu
XM_011528813.1:c.2269A>C	XP_011527115.1:p.Met757Leu
XM_011528814.1:c.1876A>C	XP_011527116.1:p.Met626Leu
NM_004518.5:c.2203A>C	NP_004509.2:p.Met735Leu
NM_172106.2:c.2233A>C	NP_742104.1:p.Met745Leu
NM_172107.3:c.2287A>C	NP_742105.1:p.Met763Leu
NM_172108.4:c.2194A>C	NP_742106.1:p.Met732Leu
XM_011528810.2:c.2341A>C	XP_011527112.1:p.Met781Leu
XM_011528811.2:c.2311A>C	XP_011527113.1:p.Met771Leu
XM_017027841.2:c.2338A>C	XP_016883330.1:p.Met780Leu
XM_017027842.2:c.2275A>C	XP_016883331.1:p.Met759Leu
XM_017027843.1:c.2272A>C	XP_016883332.1:p.Met758Leu
XM_017027844.2:c.2230A>C	XP_016883333.1:p.Met744Leu
XM_017027845.1:c.1303A>C	XP_016883334.1:p.Met435Leu
NM_004518.6:c.2203A>C	NP_004509.2:p.Met735Leu
NM_172106.3:c.2233A>C	NP_742104.1:p.Met745Leu
NM_172107.4:c.2287A>C MANE Select	NP_742105.1:p.Met763Leu
NM_172108.5:c.2194A>C	NP_742106.1:p.Met732Leu
NM_001382235.1:c.2341A>C	NP_001369164.1:p.Met781Leu