Canonical Allele Identifier: CA409639380

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038674T>G (hg19) ; chr20:g.63407321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407321T>G , CM000682.2:g.63407321T>G	GRCh38
NC_000020.10:g.62038674T>G , CM000682.1:g.62038674T>G	GRCh37
NC_000020.9:g.61509118T>G	NCBI36
NG_009004.1:g.70320A>C
NG_009004.2:g.70320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1996A>C	ENSP00000516702.1:p.Met666Leu
ENST00000359125.7:c.1942A>C MANE Select	ENSP00000352035.2:p.Met648Leu
ENST00000637193.1:c.1339A>C	ENSP00000490734.1:p.Met447Leu
ENST00000637338.1:n.99A>C
ENST00000344462.8:c.1849A>C	ENSP00000339611.4:p.Met617Leu
ENST00000357249.6:c.1510A>C	ENSP00000349789.3:p.Met504Leu
ENST00000359125.6:c.1942A>C	ENSP00000352035.2:p.Met648Leu
ENST00000360480.7:c.1858A>C	ENSP00000353668.3:p.Met620Leu
ENST00000370224.5:c.1966A>C	ENSP00000359244.2:p.Met656Leu
ENST00000625514.2:c.1930A>C	ENSP00000486040.1:p.Met644Leu
ENST00000626839.2:c.1888A>C	ENSP00000486706.1:p.Met630Leu
ENST00000629241.2:c.1858A>C	ENSP00000487142.1:p.Met620Leu
ENST00000629676.2:c.1679+6129A>C	ENSP00000486194.1:n.1679+6129A>C
NM_004518.4:c.1858A>C	NP_004509.2:p.Met620Leu
NM_172106.1:c.1888A>C	NP_742104.1:p.Met630Leu
NM_172107.2:c.1942A>C	NP_742105.1:p.Met648Leu
NM_172108.3:c.1849A>C	NP_742106.1:p.Met617Leu
XM_006723787.1:c.1984A>C	XP_006723850.1:p.Met662Leu
XM_011528807.1:c.2050A>C	XP_011527109.1:p.Met684Leu
XM_011528808.1:c.2047A>C	XP_011527110.1:p.Met683Leu
XM_011528809.1:c.2020A>C	XP_011527111.1:p.Met674Leu
XM_011528810.1:c.1996A>C	XP_011527112.1:p.Met666Leu
XM_011528811.1:c.1966A>C	XP_011527113.1:p.Met656Leu
XM_011528812.1:c.1939A>C	XP_011527114.1:p.Met647Leu
XM_011528813.1:c.1924A>C	XP_011527115.1:p.Met642Leu
XM_011528814.1:c.1531A>C	XP_011527116.1:p.Met511Leu
NM_004518.5:c.1858A>C	NP_004509.2:p.Met620Leu
NM_172106.2:c.1888A>C	NP_742104.1:p.Met630Leu
NM_172107.3:c.1942A>C	NP_742105.1:p.Met648Leu
NM_172108.4:c.1849A>C	NP_742106.1:p.Met617Leu
XM_011528810.2:c.1996A>C	XP_011527112.1:p.Met666Leu
XM_011528811.2:c.1966A>C	XP_011527113.1:p.Met656Leu
XM_017027841.2:c.1993A>C	XP_016883330.1:p.Met665Leu
XM_017027842.2:c.1930A>C	XP_016883331.1:p.Met644Leu
XM_017027843.1:c.1927A>C	XP_016883332.1:p.Met643Leu
XM_017027844.2:c.1885A>C	XP_016883333.1:p.Met629Leu
XM_017027845.1:c.958A>C	XP_016883334.1:p.Met320Leu
NM_004518.6:c.1858A>C	NP_004509.2:p.Met620Leu
NM_172106.3:c.1888A>C	NP_742104.1:p.Met630Leu
NM_172107.4:c.1942A>C MANE Select	NP_742105.1:p.Met648Leu
NM_172108.5:c.1849A>C	NP_742106.1:p.Met617Leu
NM_001382235.1:c.1996A>C	NP_001369164.1:p.Met666Leu