Canonical Allele Identifier: CA426119054
Gene: CALM2 HGNC NCBI

Linked Data

gnomAD v4: 2-47162312-T-G
MyVariant Identifiers: chr2:g.47389451T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47162312T>G , CM000664.2:g.47162312T>G GRCh38
NC_000002.11:g.47389451T>G , CM000664.1:g.47389451T>G GRCh37
NC_000002.10:g.47242955T>G NCBI36
NG_042065.1:g.19625A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272298.12:c.259A>C MANE Select ENSP00000272298.7:p.Arg87=
ENST00000456319.6:c.151A>C ENSP00000411440.2:p.Arg51=
ENST00000652974.1:c.*243A>C ENSP00000499369.1:n.*243A>C
ENST00000655450.1:c.151A>C ENSP00000499266.1:p.Arg51=
ENST00000655728.1:c.151A>C ENSP00000499656.1:p.Arg51=
ENST00000656538.1:c.151A>C ENSP00000499357.1:p.Arg51=
ENST00000668667.1:c.151A>C ENSP00000499706.1:p.Arg51=
ENST00000670593.1:n.1164A>C
ENST00000272298.11:c.259A>C ENSP00000272298.7:p.Arg87=
ENST00000409563.5:c.400A>C ENSP00000387065.1:p.Arg134=
ENST00000422269.1:c.102+8422A>C
ENST00000432899.5:c.178+207A>C ENSP00000406112.1:n.178+207A>C
ENST00000456319.5:c.373A>C ENSP00000411440.1:p.Arg125=
ENST00000460218.5:n.3699A>C
ENST00000482532.5:n.1526A>C
ENST00000484408.5:n.520A>C
ENST00000489742.1:n.496A>C
ENST00000628793.2:c.165+220A>C ENSP00000486952.1:n.165+220A>C
NM_001305624.1:c.403A>C NP_001292553.1:p.Arg135=
NM_001305625.1:c.151A>C NP_001292554.1:p.Arg51=
NM_001305626.1:c.151A>C NP_001292555.1:p.Arg51=
NM_001743.4:c.259A>C NP_001734.1:p.Arg87=
NM_001743.5:c.259A>C NP_001734.1:p.Arg87=
NM_001743.6:c.259A>C MANE Select NP_001734.1:p.Arg87=
NM_001305625.2:c.151A>C NP_001292554.1:p.Arg51=