Canonical Allele Identifier: CA4821549

Gene: KCNS2 STK3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98429282G>A , CM000670.2:g.98429282G>A	GRCh38
NC_000008.10:g.99441510G>A , CM000670.1:g.99441510G>A	GRCh37
NC_000008.9:g.99510686G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020697.4:c.1303G>A (KCNS2) MANE Select	NP_065748.1:p.Gly435Arg
ENST00000287042.5:c.1303G>A (KCNS2) MANE Select	ENSP00000287042.4:p.Gly435Arg
NM_020697.2:c.1303G>A (KCNS2)	NP_065748.1:p.Gly435Arg
NM_020697.3:c.1303G>A (KCNS2)	NP_065748.1:p.Gly435Arg
ENST00000287042.4:c.1303G>A (KCNS2)	ENSP00000287042.4:p.Gly435Arg
ENST00000517832.1:n.483+4845C>T (STK3)
ENST00000521839.1:c.1303G>A (KCNS2)	ENSP00000430712.1:p.Gly435Arg
ENST00000649151.1:n.427+4845C>T (STK3)
XM_011517247.1:c.*127+4845C>T (STK3)	XP_011515549.1:n.*127+4845C>T
XM_011517249.1:c.1507+7821C>T (STK3)	XP_011515551.1:n.1507+7821C>T