Canonical Allele Identifier: CA4821404

Gene: KCNS2 STK3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98428362T>C , CM000670.2:g.98428362T>C	GRCh38
NC_000008.10:g.99440590T>C , CM000670.1:g.99440590T>C	GRCh37
NC_000008.9:g.99509766T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020697.4:c.383T>C (KCNS2) MANE Select	NP_065748.1:p.Val128Ala
ENST00000287042.5:c.383T>C (KCNS2) MANE Select	ENSP00000287042.4:p.Val128Ala
NM_020697.2:c.383T>C (KCNS2)	NP_065748.1:p.Val128Ala
NM_020697.3:c.383T>C (KCNS2)	NP_065748.1:p.Val128Ala
ENST00000287042.4:c.383T>C (KCNS2)	ENSP00000287042.4:p.Val128Ala
ENST00000517832.1:n.483+5765A>G (STK3)
ENST00000521839.1:c.383T>C (KCNS2)	ENSP00000430712.1:p.Val128Ala
ENST00000649151.1:n.427+5765A>G (STK3)
XM_011517247.1:c.*127+5765A>G (STK3)	XP_011515549.1:n.*127+5765A>G
XM_011517249.1:c.1507+8741A>G (STK3)	XP_011515551.1:n.1507+8741A>G