Canonical Allele Identifier: CA409639327

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038653T>G (hg19) ; chr20:g.63407300T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407300T>G , CM000682.2:g.63407300T>G	GRCh38
NC_000020.10:g.62038653T>G , CM000682.1:g.62038653T>G	GRCh37
NC_000020.9:g.61509097T>G	NCBI36
NG_009004.1:g.70341A>C
NG_009004.2:g.70341A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2017A>C	ENSP00000516702.1:p.Thr673Pro
ENST00000359125.7:c.1963A>C MANE Select	ENSP00000352035.2:p.Thr655Pro
ENST00000637193.1:c.1360A>C	ENSP00000490734.1:p.Thr454Pro
ENST00000344462.8:c.1870A>C	ENSP00000339611.4:p.Thr624Pro
ENST00000357249.6:c.1531A>C	ENSP00000349789.3:p.Thr511Pro
ENST00000359125.6:c.1963A>C	ENSP00000352035.2:p.Thr655Pro
ENST00000360480.7:c.1879A>C	ENSP00000353668.3:p.Thr627Pro
ENST00000370224.5:c.1987A>C	ENSP00000359244.2:p.Thr663Pro
ENST00000625514.2:c.1951A>C	ENSP00000486040.1:p.Thr651Pro
ENST00000626839.2:c.1909A>C	ENSP00000486706.1:p.Thr637Pro
ENST00000629241.2:c.1879A>C	ENSP00000487142.1:p.Thr627Pro
ENST00000629676.2:c.1679+6150A>C	ENSP00000486194.1:n.1679+6150A>C
NM_004518.4:c.1879A>C	NP_004509.2:p.Thr627Pro
NM_172106.1:c.1909A>C	NP_742104.1:p.Thr637Pro
NM_172107.2:c.1963A>C	NP_742105.1:p.Thr655Pro
NM_172108.3:c.1870A>C	NP_742106.1:p.Thr624Pro
XM_006723787.1:c.2005A>C	XP_006723850.1:p.Thr669Pro
XM_011528807.1:c.2071A>C	XP_011527109.1:p.Thr691Pro
XM_011528808.1:c.2068A>C	XP_011527110.1:p.Thr690Pro
XM_011528809.1:c.2041A>C	XP_011527111.1:p.Thr681Pro
XM_011528810.1:c.2017A>C	XP_011527112.1:p.Thr673Pro
XM_011528811.1:c.1987A>C	XP_011527113.1:p.Thr663Pro
XM_011528812.1:c.1960A>C	XP_011527114.1:p.Thr654Pro
XM_011528813.1:c.1945A>C	XP_011527115.1:p.Thr649Pro
XM_011528814.1:c.1552A>C	XP_011527116.1:p.Thr518Pro
NM_004518.5:c.1879A>C	NP_004509.2:p.Thr627Pro
NM_172106.2:c.1909A>C	NP_742104.1:p.Thr637Pro
NM_172107.3:c.1963A>C	NP_742105.1:p.Thr655Pro
NM_172108.4:c.1870A>C	NP_742106.1:p.Thr624Pro
XM_011528810.2:c.2017A>C	XP_011527112.1:p.Thr673Pro
XM_011528811.2:c.1987A>C	XP_011527113.1:p.Thr663Pro
XM_017027841.2:c.2014A>C	XP_016883330.1:p.Thr672Pro
XM_017027842.2:c.1951A>C	XP_016883331.1:p.Thr651Pro
XM_017027843.1:c.1948A>C	XP_016883332.1:p.Thr650Pro
XM_017027844.2:c.1906A>C	XP_016883333.1:p.Thr636Pro
XM_017027845.1:c.979A>C	XP_016883334.1:p.Thr327Pro
NM_004518.6:c.1879A>C	NP_004509.2:p.Thr627Pro
NM_172106.3:c.1909A>C	NP_742104.1:p.Thr637Pro
NM_172107.4:c.1963A>C MANE Select	NP_742105.1:p.Thr655Pro
NM_172108.5:c.1870A>C	NP_742106.1:p.Thr624Pro
NM_001382235.1:c.2017A>C	NP_001369164.1:p.Thr673Pro