Canonical Allele Identifier: CA1648570

Gene: CALM2

Linked Data

• ClinVar Variation Id: 1126088
• ClinVar RCV Id: RCV002239420
• dbSNP Id: rs765564888
• ExAC: 2:47389449 T / C
• gnomAD v2: 2-47389449-T-C
• gnomAD v3: 2-47162310-T-C
• gnomAD v4: 2-47162310-T-C
• MyVariant Identifiers: chr2:g.47389449T>C (hg19) ; chr2:g.47162310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162310T>C , CM000664.2:g.47162310T>C	GRCh38
NC_000002.11:g.47389449T>C , CM000664.1:g.47389449T>C	GRCh37
NC_000002.10:g.47242953T>C	NCBI36
NG_042065.1:g.19627A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272298.12:c.261A>G MANE Select	ENSP00000272298.7:p.Arg87=
ENST00000456319.6:c.153A>G	ENSP00000411440.2:p.Arg51=
ENST00000652974.1:c.*245A>G	ENSP00000499369.1:n.*245A>G
ENST00000655450.1:c.153A>G	ENSP00000499266.1:p.Arg51=
ENST00000655728.1:c.153A>G	ENSP00000499656.1:p.Arg51=
ENST00000656538.1:c.153A>G	ENSP00000499357.1:p.Arg51=
ENST00000668667.1:c.153A>G	ENSP00000499706.1:p.Arg51=
ENST00000670593.1:n.1166A>G
ENST00000272298.11:c.261A>G	ENSP00000272298.7:p.Arg87=
ENST00000409563.5:c.402A>G	ENSP00000387065.1:p.Arg134=
ENST00000422269.1:c.102+8424A>G
ENST00000432899.5:c.178+209A>G	ENSP00000406112.1:n.178+209A>G
ENST00000456319.5:c.375A>G	ENSP00000411440.1:p.Arg125=
ENST00000460218.5:n.3701A>G
ENST00000482532.5:n.1528A>G
ENST00000484408.5:n.522A>G
ENST00000489742.1:n.498A>G
ENST00000628793.2:c.165+222A>G	ENSP00000486952.1:n.165+222A>G
NM_001305624.1:c.405A>G	NP_001292553.1:p.Arg135=
NM_001305625.1:c.153A>G	NP_001292554.1:p.Arg51=
NM_001305626.1:c.153A>G	NP_001292555.1:p.Arg51=
NM_001743.4:c.261A>G	NP_001734.1:p.Arg87=
NM_001743.5:c.261A>G	NP_001734.1:p.Arg87=
NM_001743.6:c.261A>G MANE Select	NP_001734.1:p.Arg87=
NM_001305625.2:c.153A>G	NP_001292554.1:p.Arg51=