Canonical Allele Identifier: CA409637825

Gene: KCNQ2

Linked Data

• dbSNP Id: rs774206764
• gnomAD v2: 20-62038301-G-C
• gnomAD v3: 20-63406948-G-C
• gnomAD v4: 20-63406948-G-C
• MyVariant Identifiers: chr20:g.62038301G>C (hg19) ; chr20:g.63406948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406948G>C , CM000682.2:g.63406948G>C	GRCh38
NC_000020.10:g.62038301G>C , CM000682.1:g.62038301G>C	GRCh37
NC_000020.9:g.61508745G>C	NCBI36
NG_009004.1:g.70693C>G
NG_009004.2:g.70693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2369C>G	ENSP00000516702.1:p.Pro790Arg
ENST00000359125.7:c.2315C>G MANE Select	ENSP00000352035.2:p.Pro772Arg
ENST00000637193.1:c.1712C>G	ENSP00000490734.1:p.Pro571Arg
ENST00000344462.8:c.2222C>G	ENSP00000339611.4:p.Pro741Arg
ENST00000357249.6:c.1883C>G	ENSP00000349789.3:p.Pro628Arg
ENST00000359125.6:c.2315C>G	ENSP00000352035.2:p.Pro772Arg
ENST00000360480.7:c.2231C>G	ENSP00000353668.3:p.Pro744Arg
ENST00000370224.5:c.2241+98C>G	ENSP00000359244.2:n.2241+98C>G
ENST00000625514.2:c.2205+98C>G	ENSP00000486040.1:n.2205+98C>G
ENST00000626839.2:c.2261C>G	ENSP00000486706.1:p.Pro754Arg
ENST00000629241.2:c.2133+98C>G	ENSP00000487142.1:n.2133+98C>G
ENST00000629676.2:c.1680-6105C>G	ENSP00000486194.1:n.1680-6105C>G
NM_004518.4:c.2231C>G	NP_004509.2:p.Pro744Arg
NM_172106.1:c.2261C>G	NP_742104.1:p.Pro754Arg
NM_172107.2:c.2315C>G	NP_742105.1:p.Pro772Arg
NM_172108.3:c.2222C>G	NP_742106.1:p.Pro741Arg
XM_006723787.1:c.2357C>G	XP_006723850.1:p.Pro786Arg
XM_011528807.1:c.2423C>G	XP_011527109.1:p.Pro808Arg
XM_011528808.1:c.2420C>G	XP_011527110.1:p.Pro807Arg
XM_011528809.1:c.2393C>G	XP_011527111.1:p.Pro798Arg
XM_011528810.1:c.2369C>G	XP_011527112.1:p.Pro790Arg
XM_011528811.1:c.2339C>G	XP_011527113.1:p.Pro780Arg
XM_011528812.1:c.2312C>G	XP_011527114.1:p.Pro771Arg
XM_011528813.1:c.2297C>G	XP_011527115.1:p.Pro766Arg
XM_011528814.1:c.1904C>G	XP_011527116.1:p.Pro635Arg
NM_004518.5:c.2231C>G	NP_004509.2:p.Pro744Arg
NM_172106.2:c.2261C>G	NP_742104.1:p.Pro754Arg
NM_172107.3:c.2315C>G	NP_742105.1:p.Pro772Arg
NM_172108.4:c.2222C>G	NP_742106.1:p.Pro741Arg
XM_011528810.2:c.2369C>G	XP_011527112.1:p.Pro790Arg
XM_011528811.2:c.2339C>G	XP_011527113.1:p.Pro780Arg
XM_017027841.2:c.2366C>G	XP_016883330.1:p.Pro789Arg
XM_017027842.2:c.2303C>G	XP_016883331.1:p.Pro768Arg
XM_017027843.1:c.2300C>G	XP_016883332.1:p.Pro767Arg
XM_017027844.2:c.2258C>G	XP_016883333.1:p.Pro753Arg
XM_017027845.1:c.1331C>G	XP_016883334.1:p.Pro444Arg
NM_004518.6:c.2231C>G	NP_004509.2:p.Pro744Arg
NM_172106.3:c.2261C>G	NP_742104.1:p.Pro754Arg
NM_172107.4:c.2315C>G MANE Select	NP_742105.1:p.Pro772Arg
NM_172108.5:c.2222C>G	NP_742106.1:p.Pro741Arg
NM_001382235.1:c.2369C>G	NP_001369164.1:p.Pro790Arg