Canonical Allele Identifier: CA16043137

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 373718
• ClinVar RCV Id: RCV000414686 ; RCV001089800
• dbSNP Id: rs1057518569
• gnomAD v3: 20-63407029-G-A
• gnomAD v4: 20-63407029-G-A
• COSMIC: COSM4996042 ; COSM4996043 ; COSM4996044
• MyVariant Identifiers: chr20:g.62038382G>A (hg19) ; chr20:g.63407029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407029G>A , CM000682.2:g.63407029G>A	GRCh38
NC_000020.10:g.62038382G>A , CM000682.1:g.62038382G>A	GRCh37
NC_000020.9:g.61508826G>A	NCBI36
NG_009004.1:g.70612C>T
NG_009004.2:g.70612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2288C>T	ENSP00000516702.1:p.Pro763Leu
ENST00000359125.7:c.2234C>T MANE Select	ENSP00000352035.2:p.Pro745Leu
ENST00000637193.1:c.1631C>T	ENSP00000490734.1:p.Pro544Leu
ENST00000344462.8:c.2141C>T	ENSP00000339611.4:p.Pro714Leu
ENST00000357249.6:c.1802C>T	ENSP00000349789.3:p.Pro601Leu
ENST00000359125.6:c.2234C>T	ENSP00000352035.2:p.Pro745Leu
ENST00000360480.7:c.2150C>T	ENSP00000353668.3:p.Pro717Leu
ENST00000370224.5:c.2241+17C>T	ENSP00000359244.2:n.2241+17C>T
ENST00000625514.2:c.2205+17C>T	ENSP00000486040.1:n.2205+17C>T
ENST00000626839.2:c.2180C>T	ENSP00000486706.1:p.Pro727Leu
ENST00000629241.2:c.2133+17C>T	ENSP00000487142.1:n.2133+17C>T
ENST00000629676.2:c.1680-6186C>T	ENSP00000486194.1:n.1680-6186C>T
NM_004518.4:c.2150C>T	NP_004509.2:p.Pro717Leu
NM_172106.1:c.2180C>T	NP_742104.1:p.Pro727Leu
NM_172107.2:c.2234C>T	NP_742105.1:p.Pro745Leu
NM_172108.3:c.2141C>T	NP_742106.1:p.Pro714Leu
XM_006723787.1:c.2276C>T	XP_006723850.1:p.Pro759Leu
XM_011528807.1:c.2342C>T	XP_011527109.1:p.Pro781Leu
XM_011528808.1:c.2339C>T	XP_011527110.1:p.Pro780Leu
XM_011528809.1:c.2312C>T	XP_011527111.1:p.Pro771Leu
XM_011528810.1:c.2288C>T	XP_011527112.1:p.Pro763Leu
XM_011528811.1:c.2258C>T	XP_011527113.1:p.Pro753Leu
XM_011528812.1:c.2231C>T	XP_011527114.1:p.Pro744Leu
XM_011528813.1:c.2216C>T	XP_011527115.1:p.Pro739Leu
XM_011528814.1:c.1823C>T	XP_011527116.1:p.Pro608Leu
NM_004518.5:c.2150C>T	NP_004509.2:p.Pro717Leu
NM_172106.2:c.2180C>T	NP_742104.1:p.Pro727Leu
NM_172107.3:c.2234C>T	NP_742105.1:p.Pro745Leu
NM_172108.4:c.2141C>T	NP_742106.1:p.Pro714Leu
XM_011528810.2:c.2288C>T	XP_011527112.1:p.Pro763Leu
XM_011528811.2:c.2258C>T	XP_011527113.1:p.Pro753Leu
XM_017027841.2:c.2285C>T	XP_016883330.1:p.Pro762Leu
XM_017027842.2:c.2222C>T	XP_016883331.1:p.Pro741Leu
XM_017027843.1:c.2219C>T	XP_016883332.1:p.Pro740Leu
XM_017027844.2:c.2177C>T	XP_016883333.1:p.Pro726Leu
XM_017027845.1:c.1250C>T	XP_016883334.1:p.Pro417Leu
NM_004518.6:c.2150C>T	NP_004509.2:p.Pro717Leu
NM_172106.3:c.2180C>T	NP_742104.1:p.Pro727Leu
NM_172107.4:c.2234C>T MANE Select	NP_742105.1:p.Pro745Leu
NM_172108.5:c.2141C>T	NP_742106.1:p.Pro714Leu
NM_001382235.1:c.2288C>T	NP_001369164.1:p.Pro763Leu