Canonical Allele Identifier: CA3372987

Gene: KCNN2

Linked Data

• dbSNP Id: rs754288696
• ExAC: 5:113798895 T / C
• gnomAD v2: 5-113798895-T-C
• MyVariant Identifiers: chr5:g.113798895T>C (hg19) ; chr5:g.114463198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114463198T>C , CM000667.2:g.114463198T>C	GRCh38
NC_000005.9:g.113798895T>C , CM000667.1:g.113798895T>C	GRCh37
NC_000005.8:g.113826794T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000512097.10:c.1977+8T>C	ENSP00000427120.4:n.1977+8T>C
ENST00000512097.9:c.1977+8T>C	ENSP00000427120.4:n.1977+8T>C
ENST00000631899.2:c.1181+8T>C
ENST00000673685.1:c.1779+8T>C MANE Select	ENSP00000501239.1:n.1779+8T>C
ENST00000264773.7:c.1143+8T>C	ENSP00000264773.2:n.1143+8T>C
ENST00000503706.5:c.99+8T>C	ENSP00000421439.1:n.99+8T>C
ENST00000505491.1:c.99+8T>C	ENSP00000421095.1:n.99+8T>C
ENST00000507750.5:n.393+8T>C
ENST00000512097.7:c.1143+8T>C	ENSP00000427120.3:n.1143+8T>C
ENST00000610748.4:c.99+8T>C	ENSP00000483124.1:n.99+8T>C
ENST00000631899.1:c.1143+8T>C	ENSP00000487849.1:n.1143+8T>C
NM_001278204.1:c.99+8T>C	NP_001265133.1:n.99+8T>C
NM_021614.3:c.1143+8T>C	NP_067627.2:n.1143+8T>C
NM_170775.2:c.99+8T>C	NP_740721.1:n.99+8T>C
NR_103458.1:n.542+8T>C
NR_130785.1:n.1539+6564A>G
XM_011543387.1:c.1977+8T>C	XP_011541689.1:n.1977+8T>C
XM_011543388.1:c.1977+8T>C	XP_011541690.1:n.1977+8T>C
XM_011543389.1:c.1977+8T>C	XP_011541691.1:n.1977+8T>C
XM_017009457.1:c.231+8T>C	XP_016864946.1:n.231+8T>C
NM_001372233.1:c.1977+8T>C	NP_001359162.1:n.1977+8T>C
NM_021614.4:c.1779+8T>C MANE Select	NP_067627.3:n.1779+8T>C
NM_170775.3:c.99+8T>C	NP_740721.1:n.99+8T>C
NR_103458.2:n.561+8T>C
NM_001278204.2:c.99+8T>C	NP_001265133.1:n.99+8T>C
NR_174097.1:n.1430+8T>C