Canonical Allele Identifier: CA186025

Gene: CALM2

Linked Data

• ClinVar Variation Id: 96720
• ClinVar RCV Id: RCV000162067 ; RCV000143836 ; RCV003318349
• dbSNP Id: rs398124647
• MyVariant Identifiers: chr2:g.47388990T>C (hg19) ; chr2:g.47161851T>C (hg38)
• PubMed: PMID:24917665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161851T>C , CM000664.2:g.47161851T>C	GRCh38
NC_000002.11:g.47388990T>C , CM000664.1:g.47388990T>C	GRCh37
NC_000002.10:g.47242494T>C	NCBI36
NG_042065.1:g.20086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.293A>G MANE Select	ENSP00000272298.7:p.Asn98Ser
ENST00000456319.6:c.185A>G	ENSP00000411440.2:p.Asn62Ser
ENST00000652974.1:c.*277A>G	ENSP00000499369.1:n.*277A>G
ENST00000655450.1:c.185A>G	ENSP00000499266.1:p.Asn62Ser
ENST00000655728.1:c.185A>G	ENSP00000499656.1:p.Asn62Ser
ENST00000656538.1:c.185A>G	ENSP00000499357.1:p.Asn62Ser
ENST00000668667.1:c.185A>G	ENSP00000499706.1:p.Asn62Ser
ENST00000670593.1:n.1198A>G
ENST00000272298.11:c.293A>G	ENSP00000272298.7:p.Asn98Ser
ENST00000409563.5:c.434A>G	ENSP00000387065.1:p.Asn145Ser
ENST00000422269.1:c.103-8835A>G
ENST00000432899.5:c.186A>G	ENSP00000406112.1:p.Gln62=
ENST00000456319.5:c.407A>G	ENSP00000411440.1:p.Asn136Ser
ENST00000460218.5:n.3733A>G
ENST00000482532.5:n.1560A>G
ENST00000484408.5:n.554A>G
ENST00000628793.2:c.166-71A>G	ENSP00000486952.1:n.166-71A>G
NM_001305624.1:c.437A>G	NP_001292553.1:p.Asn146Ser
NM_001305625.1:c.185A>G	NP_001292554.1:p.Asn62Ser
NM_001305626.1:c.185A>G	NP_001292555.1:p.Asn62Ser
NM_001743.4:c.293A>G	NP_001734.1:p.Asn98Ser
NM_001743.5:c.293A>G	NP_001734.1:p.Asn98Ser
NM_001743.6:c.293A>G MANE Select	NP_001734.1:p.Asn98Ser
NM_001305625.2:c.185A>G	NP_001292554.1:p.Asn62Ser