Canonical Allele Identifier: CA1648543

Gene: CALM2

Linked Data

• ClinVar Variation Id: 458192
• ClinVar RCV Id: RCV002231251 ; RCV002456071
• dbSNP Id: rs546507069
• ExAC: 2:47388935 C / T
• gnomAD v2: 2-47388935-C-T
• gnomAD v3: 2-47161796-C-T
• gnomAD v4: 2-47161796-C-T
• MyVariant Identifiers: chr2:g.47388935C>T (hg19) ; chr2:g.47161796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161796C>T , CM000664.2:g.47161796C>T	GRCh38
NC_000002.11:g.47388935C>T , CM000664.1:g.47388935C>T	GRCh37
NC_000002.10:g.47242439C>T	NCBI36
NG_042065.1:g.20141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272298.12:c.348G>A MANE Select	ENSP00000272298.7:p.Lys116=
ENST00000456319.6:c.240G>A	ENSP00000411440.2:p.Lys80=
ENST00000652974.1:c.*332G>A	ENSP00000499369.1:n.*332G>A
ENST00000655450.1:c.240G>A	ENSP00000499266.1:p.Lys80=
ENST00000655728.1:c.240G>A	ENSP00000499656.1:p.Lys80=
ENST00000656538.1:c.240G>A	ENSP00000499357.1:p.Lys80=
ENST00000668667.1:c.240G>A	ENSP00000499706.1:p.Lys80=
ENST00000670593.1:n.1253G>A
ENST00000272298.11:c.348G>A	ENSP00000272298.7:p.Lys116=
ENST00000409563.5:c.489G>A	ENSP00000387065.1:p.Lys163=
ENST00000422269.1:c.103-8780G>A
ENST00000432899.5:c.*43G>A	ENSP00000406112.1:n.*43G>A
ENST00000456319.5:c.462G>A	ENSP00000411440.1:p.Lys154=
ENST00000460218.5:n.3788G>A
ENST00000482532.5:n.1615G>A
ENST00000484408.5:n.609G>A
ENST00000628793.2:c.166-16G>A	ENSP00000486952.1:n.166-16G>A
NM_001305624.1:c.492G>A	NP_001292553.1:p.Lys164=
NM_001305625.1:c.240G>A	NP_001292554.1:p.Lys80=
NM_001305626.1:c.240G>A	NP_001292555.1:p.Lys80=
NM_001743.4:c.348G>A	NP_001734.1:p.Lys116=
NM_001743.5:c.348G>A	NP_001734.1:p.Lys116=
NM_001743.6:c.348G>A MANE Select	NP_001734.1:p.Lys116=
NM_001305625.2:c.240G>A	NP_001292554.1:p.Lys80=