Canonical Allele Identifier: CA186019

Gene: CALM2

Linked Data

• ClinVar Variation Id: 183233
• ClinVar RCV Id: RCV000162065 ; RCV001547926 ; RCV001850284
• dbSNP Id: rs730882254
• MyVariant Identifiers: chr2:g.47388996T>A (hg19) ; chr2:g.47161857T>A (hg38)
• PubMed: PMID:23388215

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161857T>A , CM000664.2:g.47161857T>A	GRCh38
NC_000002.11:g.47388996T>A , CM000664.1:g.47388996T>A	GRCh37
NC_000002.10:g.47242500T>A	NCBI36
NG_042065.1:g.20080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.287A>T MANE Select	ENSP00000272298.7:p.Asp96Val
ENST00000456319.6:c.179A>T	ENSP00000411440.2:p.Asp60Val
ENST00000652974.1:c.*271A>T	ENSP00000499369.1:n.*271A>T
ENST00000655450.1:c.179A>T	ENSP00000499266.1:p.Asp60Val
ENST00000655728.1:c.179A>T	ENSP00000499656.1:p.Asp60Val
ENST00000656538.1:c.179A>T	ENSP00000499357.1:p.Asp60Val
ENST00000668667.1:c.179A>T	ENSP00000499706.1:p.Asp60Val
ENST00000670593.1:n.1192A>T
ENST00000272298.11:c.287A>T	ENSP00000272298.7:p.Asp96Val
ENST00000409563.5:c.428A>T	ENSP00000387065.1:p.Asp143Val
ENST00000422269.1:c.103-8841A>T
ENST00000432899.5:c.180A>T	ENSP00000406112.1:p.Gly60=
ENST00000456319.5:c.401A>T	ENSP00000411440.1:p.Asp134Val
ENST00000460218.5:n.3727A>T
ENST00000482532.5:n.1554A>T
ENST00000484408.5:n.548A>T
ENST00000628793.2:c.166-77A>T	ENSP00000486952.1:n.166-77A>T
NM_001305624.1:c.431A>T	NP_001292553.1:p.Asp144Val
NM_001305625.1:c.179A>T	NP_001292554.1:p.Asp60Val
NM_001305626.1:c.179A>T	NP_001292555.1:p.Asp60Val
NM_001743.4:c.287A>T	NP_001734.1:p.Asp96Val
NM_001743.5:c.287A>T	NP_001734.1:p.Asp96Val
NM_001743.6:c.287A>T MANE Select	NP_001734.1:p.Asp96Val
NM_001305625.2:c.179A>T	NP_001292554.1:p.Asp60Val