Canonical Allele Identifier: CA3372756

Gene: KCNN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114362837G>T , CM000667.2:g.114362837G>T	GRCh38
NC_000005.9:g.113698534G>T , CM000667.1:g.113698534G>T	GRCh37
NC_000005.8:g.113726433G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512097.10:c.896G>T	ENSP00000427120.4:p.Arg299Leu
ENST00000512097.9:c.896G>T	ENSP00000427120.4:p.Arg299Leu
ENST00000631899.2:c.100G>T
ENST00000673685.1:c.698G>T MANE Select	ENSP00000501239.1:p.Arg233Leu
ENST00000264773.7:c.62G>T	ENSP00000264773.2:p.Arg21Leu
ENST00000512097.7:c.62G>T	ENSP00000427120.3:p.Arg21Leu
ENST00000610748.4:c.-564G>T	ENSP00000483124.1:n.-564G>T
ENST00000631899.1:c.62G>T	ENSP00000487849.1:p.Arg21Leu
NM_001278204.1:c.-564G>T	NP_001265133.1:n.-564G>T
NM_021614.3:c.62G>T	NP_067627.2:p.Arg21Leu
XM_011543387.1:c.896G>T	XP_011541689.1:p.Arg299Leu
XM_011543388.1:c.896G>T	XP_011541690.1:p.Arg299Leu
XM_011543389.1:c.896G>T	XP_011541691.1:p.Arg299Leu
NM_001372233.1:c.896G>T	NP_001359162.1:p.Arg299Leu
NM_021614.4:c.698G>T MANE Select	NP_067627.3:p.Arg233Leu
NM_001278204.2:c.-564G>T	NP_001265133.1:n.-564G>T
NR_174097.1:n.768G>T