Canonical Allele Identifier: CA2495693373
Community Standard Title: NM_001743.6(CALM2):c.287A= (p.Asp96=)
Gene: CALM2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001743.6:c.287A= MANE Select NP_001734.1:p.Asp96=
ENST00000272298.12:c.287A= MANE Select ENSP00000272298.7:p.Asp96=
NM_001305624.1:c.431A= NP_001292553.1:p.Asp144=
NM_001305625.1:c.179A= NP_001292554.1:p.Asp60=
NM_001305625.2:c.179A= NP_001292554.1:p.Asp60=
NM_001305626.1:c.179A= NP_001292555.1:p.Asp60=
NM_001743.4:c.287A= NP_001734.1:p.Asp96=
NM_001743.5:c.287A= NP_001734.1:p.Asp96=
ENST00000272298.11:c.287A= ENSP00000272298.7:p.Asp96=
ENST00000409563.5:c.428A= ENSP00000387065.1:p.Asp143=
ENST00000422269.1:c.103-8841A=
ENST00000432899.5:c.180A= ENSP00000406112.1:p.Gly60=
ENST00000456319.5:c.401A= ENSP00000411440.1:p.Asp134=
ENST00000456319.6:c.179A= ENSP00000411440.2:p.Asp60=
ENST00000460218.5:n.3727A=
ENST00000482532.5:n.1554A=
ENST00000484408.5:n.548A=
ENST00000628793.2:c.166-77A= ENSP00000486952.1:n.166-77A=
ENST00000652974.1:c.*271A= ENSP00000499369.1:n.*271A=
ENST00000655450.1:c.179A= ENSP00000499266.1:p.Asp60=
ENST00000655728.1:c.179A= ENSP00000499656.1:p.Asp60=
ENST00000656538.1:c.179A= ENSP00000499357.1:p.Asp60=
ENST00000668667.1:c.179A= ENSP00000499706.1:p.Asp60=
ENST00000670593.1:n.1192A=