Canonical Allele Identifier: CA360705494

Gene: KCNN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114404718T>C , CM000667.2:g.114404718T>C	GRCh38
NC_000005.9:g.113740415T>C , CM000667.1:g.113740415T>C	GRCh37
NC_000005.8:g.113768314T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_021614.4:c.1499T>C MANE Select	NP_067627.3:p.Ile500Thr
ENST00000673685.1:c.1499T>C MANE Select	ENSP00000501239.1:p.Ile500Thr
NM_001278204.1:c.-44+40717T>C	NP_001265133.1:n.-44+40717T>C
NM_001278204.2:c.-44+40717T>C	NP_001265133.1:n.-44+40717T>C
NM_001372233.1:c.1697T>C	NP_001359162.1:p.Ile566Thr
NM_021614.3:c.863T>C	NP_067627.2:p.Ile288Thr
NR_174097.1:n.1288+40717T>C
ENST00000264773.7:c.863T>C	ENSP00000264773.2:p.Ile288Thr
ENST00000507750.5:n.251+40717T>C
ENST00000512097.10:c.1697T>C	ENSP00000427120.4:p.Ile566Thr
ENST00000512097.7:c.863T>C	ENSP00000427120.3:p.Ile288Thr
ENST00000512097.9:c.1697T>C	ENSP00000427120.4:p.Ile566Thr
ENST00000610748.4:c.-44+40717T>C	ENSP00000483124.1:n.-44+40717T>C
ENST00000631899.1:c.863T>C	ENSP00000487849.1:p.Ile288Thr
ENST00000631899.2:c.901T>C
XM_011543387.1:c.1697T>C	XP_011541689.1:p.Ile566Thr
XM_011543388.1:c.1697T>C	XP_011541690.1:p.Ile566Thr
XM_011543389.1:c.1697T>C	XP_011541691.1:p.Ile566Thr