Canonical Allele Identifier: CA186030

Gene: CALM2

Linked Data

• ClinVar Variation Id: 96722
• ClinVar RCV Id: RCV000162069 ; RCV000143838
• dbSNP Id: rs398124648
• MyVariant Identifiers: chr2:g.47388887A>C (hg19) ; chr2:g.47161748A>C (hg38)
• PubMed: PMID:24917665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161748A>C , CM000664.2:g.47161748A>C	GRCh38
NC_000002.11:g.47388887A>C , CM000664.1:g.47388887A>C	GRCh37
NC_000002.10:g.47242391A>C	NCBI36
NG_042065.1:g.20189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.396T>G MANE Select	ENSP00000272298.7:p.Asp132Glu
ENST00000456319.6:c.288T>G	ENSP00000411440.2:p.Asp96Glu
ENST00000652974.1:c.*380T>G	ENSP00000499369.1:n.*380T>G
ENST00000655450.1:c.288T>G	ENSP00000499266.1:p.Asp96Glu
ENST00000655728.1:c.288T>G	ENSP00000499656.1:p.Asp96Glu
ENST00000656538.1:c.288T>G	ENSP00000499357.1:p.Asp96Glu
ENST00000668667.1:c.288T>G	ENSP00000499706.1:p.Asp96Glu
ENST00000670593.1:n.1301T>G
ENST00000272298.11:c.396T>G	ENSP00000272298.7:p.Asp132Glu
ENST00000409563.5:c.537T>G	ENSP00000387065.1:p.Asp179Glu
ENST00000422269.1:c.103-8732T>G
ENST00000432899.5:c.*91T>G	ENSP00000406112.1:n.*91T>G
ENST00000456319.5:c.510T>G	ENSP00000411440.1:p.Asp170Glu
ENST00000460218.5:n.3836T>G
ENST00000482532.5:n.1663T>G
ENST00000484408.5:n.657T>G
ENST00000628793.2:c.198T>G	ENSP00000486952.1:p.Asp66Glu
NM_001305624.1:c.540T>G	NP_001292553.1:p.Asp180Glu
NM_001305625.1:c.288T>G	NP_001292554.1:p.Asp96Glu
NM_001305626.1:c.288T>G	NP_001292555.1:p.Asp96Glu
NM_001743.4:c.396T>G	NP_001734.1:p.Asp132Glu
NM_001743.5:c.396T>G	NP_001734.1:p.Asp132Glu
NM_001743.6:c.396T>G MANE Select	NP_001734.1:p.Asp132Glu
NM_001305625.2:c.288T>G	NP_001292554.1:p.Asp96Glu