Canonical Allele Identifier: CA360705047

Gene: KCNN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114404518A>G , CM000667.2:g.114404518A>G	GRCh38
NC_000005.9:g.113740215A>G , CM000667.1:g.113740215A>G	GRCh37
NC_000005.8:g.113768114A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512097.10:c.1497A>G	ENSP00000427120.4:p.Ile499Met
ENST00000512097.9:c.1497A>G	ENSP00000427120.4:p.Ile499Met
ENST00000631899.2:c.701A>G
ENST00000673685.1:c.1299A>G MANE Select	ENSP00000501239.1:p.Ile433Met
ENST00000264773.7:c.663A>G	ENSP00000264773.2:p.Ile221Met
ENST00000507750.5:n.251+40517A>G
ENST00000512097.7:c.663A>G	ENSP00000427120.3:p.Ile221Met
ENST00000610748.4:c.-44+40517A>G	ENSP00000483124.1:n.-44+40517A>G
ENST00000631899.1:c.663A>G	ENSP00000487849.1:p.Ile221Met
NM_001278204.1:c.-44+40517A>G	NP_001265133.1:n.-44+40517A>G
NM_021614.3:c.663A>G	NP_067627.2:p.Ile221Met
XM_011543387.1:c.1497A>G	XP_011541689.1:p.Ile499Met
XM_011543388.1:c.1497A>G	XP_011541690.1:p.Ile499Met
XM_011543389.1:c.1497A>G	XP_011541691.1:p.Ile499Met
NM_001372233.1:c.1497A>G	NP_001359162.1:p.Ile499Met
NM_021614.4:c.1299A>G MANE Select	NP_067627.3:p.Ile433Met
NM_001278204.2:c.-44+40517A>G	NP_001265133.1:n.-44+40517A>G
NR_174097.1:n.1288+40517A>G