Canonical Allele Identifier: CA186033

Gene: CALM2

Linked Data

• ClinVar Variation Id: 96724
• ClinVar RCV Id: RCV000143840 ; RCV000162070
• dbSNP Id: rs398124649
• MyVariant Identifiers: chr2:g.47388876T>G (hg19) ; chr2:g.47161737T>G (hg38)
• PubMed: PMID:24917665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161737T>G , CM000664.2:g.47161737T>G	GRCh38
NC_000002.11:g.47388876T>G , CM000664.1:g.47388876T>G	GRCh37
NC_000002.10:g.47242380T>G	NCBI36
NG_042065.1:g.20200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.407A>C MANE Select	ENSP00000272298.7:p.Gln136Pro
ENST00000456319.6:c.299A>C	ENSP00000411440.2:p.Gln100Pro
ENST00000652974.1:c.*391A>C	ENSP00000499369.1:n.*391A>C
ENST00000655450.1:c.299A>C	ENSP00000499266.1:p.Gln100Pro
ENST00000655728.1:c.299A>C	ENSP00000499656.1:p.Gln100Pro
ENST00000656538.1:c.299A>C	ENSP00000499357.1:p.Gln100Pro
ENST00000668667.1:c.299A>C	ENSP00000499706.1:p.Gln100Pro
ENST00000670593.1:n.1312A>C
ENST00000272298.11:c.407A>C	ENSP00000272298.7:p.Gln136Pro
ENST00000409563.5:c.548A>C	ENSP00000387065.1:p.Gln183Pro
ENST00000422269.1:c.103-8721A>C
ENST00000432899.5:c.*102A>C	ENSP00000406112.1:n.*102A>C
ENST00000456319.5:c.521A>C	ENSP00000411440.1:p.Gln174Pro
ENST00000460218.5:n.3847A>C
ENST00000482532.5:n.1674A>C
ENST00000484408.5:n.668A>C
ENST00000628793.2:c.209A>C	ENSP00000486952.1:p.Gln70Pro
NM_001305624.1:c.551A>C	NP_001292553.1:p.Gln184Pro
NM_001305625.1:c.299A>C	NP_001292554.1:p.Gln100Pro
NM_001305626.1:c.299A>C	NP_001292555.1:p.Gln100Pro
NM_001743.4:c.407A>C	NP_001734.1:p.Gln136Pro
NM_001743.5:c.407A>C	NP_001734.1:p.Gln136Pro
NM_001743.6:c.407A>C MANE Select	NP_001734.1:p.Gln136Pro
NM_001305625.2:c.299A>C	NP_001292554.1:p.Gln100Pro