Canonical Allele Identifier: CA409645688

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045523T>G (hg19) ; chr20:g.63414170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414170T>G , CM000682.2:g.63414170T>G	GRCh38
NC_000020.10:g.62045523T>G , CM000682.1:g.62045523T>G	GRCh37
NC_000020.9:g.61515967T>G	NCBI36
NG_009004.1:g.63471A>C
NG_009004.2:g.63471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1495A>C	ENSP00000516702.1:p.Ile499Leu
ENST00000359125.7:c.1549A>C MANE Select	ENSP00000352035.2:p.Ile517Leu
ENST00000637193.1:c.946A>C	ENSP00000490734.1:p.Ile316Leu
ENST00000344462.8:c.1456A>C	ENSP00000339611.4:p.Ile486Leu
ENST00000357249.6:c.1117A>C	ENSP00000349789.3:p.Ile373Leu
ENST00000359125.6:c.1549A>C	ENSP00000352035.2:p.Ile517Leu
ENST00000360480.7:c.1465A>C	ENSP00000353668.3:p.Ile489Leu
ENST00000370224.5:c.1465A>C	ENSP00000359244.2:p.Ile489Leu
ENST00000625514.2:c.1429A>C	ENSP00000486040.1:p.Ile477Leu
ENST00000626839.2:c.1495A>C	ENSP00000486706.1:p.Ile499Leu
ENST00000627221.2:c.606A>C
ENST00000629241.2:c.1465A>C	ENSP00000487142.1:p.Ile489Leu
ENST00000629318.1:c.157A>C	ENSP00000487384.1:p.Ile53Leu
ENST00000629676.2:c.1465A>C	ENSP00000486194.1:p.Ile489Leu
NM_004518.4:c.1465A>C	NP_004509.2:p.Ile489Leu
NM_172106.1:c.1495A>C	NP_742104.1:p.Ile499Leu
NM_172107.2:c.1549A>C	NP_742105.1:p.Ile517Leu
NM_172108.3:c.1456A>C	NP_742106.1:p.Ile486Leu
XM_006723787.1:c.1549A>C	XP_006723850.1:p.Ile517Leu
XM_011528807.1:c.1549A>C	XP_011527109.1:p.Ile517Leu
XM_011528808.1:c.1546A>C	XP_011527110.1:p.Ile516Leu
XM_011528809.1:c.1519A>C	XP_011527111.1:p.Ile507Leu
XM_011528810.1:c.1495A>C	XP_011527112.1:p.Ile499Leu
XM_011528811.1:c.1465A>C	XP_011527113.1:p.Ile489Leu
XM_011528812.1:c.1546A>C	XP_011527114.1:p.Ile516Leu
XM_011528813.1:c.1423A>C	XP_011527115.1:p.Ile475Leu
XM_011528814.1:c.1030A>C	XP_011527116.1:p.Ile344Leu
XM_011528815.1:c.1549A>C	XP_011527117.1:p.Ile517Leu
NM_004518.5:c.1465A>C	NP_004509.2:p.Ile489Leu
NM_172106.2:c.1495A>C	NP_742104.1:p.Ile499Leu
NM_172107.3:c.1549A>C	NP_742105.1:p.Ile517Leu
NM_172108.4:c.1456A>C	NP_742106.1:p.Ile486Leu
XM_011528810.2:c.1495A>C	XP_011527112.1:p.Ile499Leu
XM_011528811.2:c.1465A>C	XP_011527113.1:p.Ile489Leu
XM_017027841.2:c.1492A>C	XP_016883330.1:p.Ile498Leu
XM_017027842.2:c.1495A>C	XP_016883331.1:p.Ile499Leu
XM_017027843.1:c.1426A>C	XP_016883332.1:p.Ile476Leu
XM_017027844.2:c.1492A>C	XP_016883333.1:p.Ile498Leu
XM_017027845.1:c.457A>C	XP_016883334.1:p.Ile153Leu
NM_004518.6:c.1465A>C	NP_004509.2:p.Ile489Leu
NM_172106.3:c.1495A>C	NP_742104.1:p.Ile499Leu
NM_172107.4:c.1549A>C MANE Select	NP_742105.1:p.Ile517Leu
NM_172108.5:c.1456A>C	NP_742106.1:p.Ile486Leu
NM_001382235.1:c.1495A>C	NP_001369164.1:p.Ile499Leu