Canonical Allele Identifier: CA409637998

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406975-A-G
• MyVariant Identifiers: chr20:g.62038328A>G (hg19) ; chr20:g.63406975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406975A>G , CM000682.2:g.63406975A>G	GRCh38
NC_000020.10:g.62038328A>G , CM000682.1:g.62038328A>G	GRCh37
NC_000020.9:g.61508772A>G	NCBI36
NG_009004.1:g.70666T>C
NG_009004.2:g.70666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2342T>C	ENSP00000516702.1:p.Met781Thr
ENST00000359125.7:c.2288T>C MANE Select	ENSP00000352035.2:p.Met763Thr
ENST00000637193.1:c.1685T>C	ENSP00000490734.1:p.Met562Thr
ENST00000344462.8:c.2195T>C	ENSP00000339611.4:p.Met732Thr
ENST00000357249.6:c.1856T>C	ENSP00000349789.3:p.Met619Thr
ENST00000359125.6:c.2288T>C	ENSP00000352035.2:p.Met763Thr
ENST00000360480.7:c.2204T>C	ENSP00000353668.3:p.Met735Thr
ENST00000370224.5:c.2241+71T>C	ENSP00000359244.2:n.2241+71T>C
ENST00000625514.2:c.2205+71T>C	ENSP00000486040.1:n.2205+71T>C
ENST00000626839.2:c.2234T>C	ENSP00000486706.1:p.Met745Thr
ENST00000629241.2:c.2133+71T>C	ENSP00000487142.1:n.2133+71T>C
ENST00000629676.2:c.1680-6132T>C	ENSP00000486194.1:n.1680-6132T>C
NM_004518.4:c.2204T>C	NP_004509.2:p.Met735Thr
NM_172106.1:c.2234T>C	NP_742104.1:p.Met745Thr
NM_172107.2:c.2288T>C	NP_742105.1:p.Met763Thr
NM_172108.3:c.2195T>C	NP_742106.1:p.Met732Thr
XM_006723787.1:c.2330T>C	XP_006723850.1:p.Met777Thr
XM_011528807.1:c.2396T>C	XP_011527109.1:p.Met799Thr
XM_011528808.1:c.2393T>C	XP_011527110.1:p.Met798Thr
XM_011528809.1:c.2366T>C	XP_011527111.1:p.Met789Thr
XM_011528810.1:c.2342T>C	XP_011527112.1:p.Met781Thr
XM_011528811.1:c.2312T>C	XP_011527113.1:p.Met771Thr
XM_011528812.1:c.2285T>C	XP_011527114.1:p.Met762Thr
XM_011528813.1:c.2270T>C	XP_011527115.1:p.Met757Thr
XM_011528814.1:c.1877T>C	XP_011527116.1:p.Met626Thr
NM_004518.5:c.2204T>C	NP_004509.2:p.Met735Thr
NM_172106.2:c.2234T>C	NP_742104.1:p.Met745Thr
NM_172107.3:c.2288T>C	NP_742105.1:p.Met763Thr
NM_172108.4:c.2195T>C	NP_742106.1:p.Met732Thr
XM_011528810.2:c.2342T>C	XP_011527112.1:p.Met781Thr
XM_011528811.2:c.2312T>C	XP_011527113.1:p.Met771Thr
XM_017027841.2:c.2339T>C	XP_016883330.1:p.Met780Thr
XM_017027842.2:c.2276T>C	XP_016883331.1:p.Met759Thr
XM_017027843.1:c.2273T>C	XP_016883332.1:p.Met758Thr
XM_017027844.2:c.2231T>C	XP_016883333.1:p.Met744Thr
XM_017027845.1:c.1304T>C	XP_016883334.1:p.Met435Thr
NM_004518.6:c.2204T>C	NP_004509.2:p.Met735Thr
NM_172106.3:c.2234T>C	NP_742104.1:p.Met745Thr
NM_172107.4:c.2288T>C MANE Select	NP_742105.1:p.Met763Thr
NM_172108.5:c.2195T>C	NP_742106.1:p.Met732Thr
NM_001382235.1:c.2342T>C	NP_001369164.1:p.Met781Thr