Canonical Allele Identifier: CA360704630

Gene: KCNN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114473072C>G , CM000667.2:g.114473072C>G	GRCh38
NC_000005.9:g.113808769C>G , CM000667.1:g.113808769C>G	GRCh37
NC_000005.8:g.113836668C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_021614.4:c.1798C>G MANE Select	NP_067627.3:p.Leu600Val
ENST00000673685.1:c.1798C>G MANE Select	ENSP00000501239.1:p.Leu600Val
NM_001278204.1:c.118C>G	NP_001265133.1:p.Leu40Val
NM_001278204.2:c.118C>G	NP_001265133.1:p.Leu40Val
NM_001372233.1:c.1996C>G	NP_001359162.1:p.Leu666Val
NM_021614.3:c.1162C>G	NP_067627.2:p.Leu388Val
NM_170775.2:c.118C>G	NP_740721.1:p.Leu40Val
NM_170775.3:c.118C>G	NP_740721.1:p.Leu40Val
NR_103458.1:n.561C>G
NR_103458.2:n.580C>G
NR_130785.1:n.1243-715G>C
NR_174097.1:n.1449C>G
ENST00000264773.7:c.1162C>G	ENSP00000264773.2:p.Leu388Val
ENST00000503706.5:c.118C>G	ENSP00000421439.1:p.Leu40Val
ENST00000505491.1:c.118C>G	ENSP00000421095.1:p.Leu40Val
ENST00000507750.5:n.412C>G
ENST00000512097.10:c.1996C>G	ENSP00000427120.4:p.Leu666Val
ENST00000512097.7:c.1162C>G	ENSP00000427120.3:p.Leu388Val
ENST00000512097.9:c.1996C>G	ENSP00000427120.4:p.Leu666Val
ENST00000610748.4:c.118C>G	ENSP00000483124.1:p.Leu40Val
ENST00000631899.1:c.1162C>G	ENSP00000487849.1:p.Leu388Val
ENST00000631899.2:c.1200C>G
XM_011543387.1:c.1996C>G	XP_011541689.1:p.Leu666Val
XM_011543388.1:c.1996C>G	XP_011541690.1:p.Leu666Val
XM_011543389.1:c.1996C>G	XP_011541691.1:p.Leu666Val
XM_017009457.1:c.250C>G	XP_016864946.1:p.Leu84Val