Canonical Allele Identifier: CA346719046
Community Standard Title: NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)
Gene: CALM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47161747C>T , CM000664.2:g.47161747C>T GRCh38
NC_000002.11:g.47388886C>T , CM000664.1:g.47388886C>T GRCh37
NC_000002.10:g.47242390C>T NCBI36
NG_042065.1:g.20190G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001743.6:c.397G>A MANE Select NP_001734.1:p.Gly133Ser
ENST00000272298.12:c.397G>A MANE Select ENSP00000272298.7:p.Gly133Ser
NM_001305624.1:c.541G>A NP_001292553.1:p.Gly181Ser
NM_001305625.1:c.289G>A NP_001292554.1:p.Gly97Ser
NM_001305625.2:c.289G>A NP_001292554.1:p.Gly97Ser
NM_001305626.1:c.289G>A NP_001292555.1:p.Gly97Ser
NM_001743.4:c.397G>A NP_001734.1:p.Gly133Ser
NM_001743.5:c.397G>A NP_001734.1:p.Gly133Ser
ENST00000272298.11:c.397G>A ENSP00000272298.7:p.Gly133Ser
ENST00000409563.5:c.538G>A ENSP00000387065.1:p.Gly180Ser
ENST00000422269.1:c.103-8731G>A
ENST00000432899.5:c.*92G>A ENSP00000406112.1:n.*92G>A
ENST00000456319.5:c.511G>A ENSP00000411440.1:p.Gly171Ser
ENST00000456319.6:c.289G>A ENSP00000411440.2:p.Gly97Ser
ENST00000460218.5:n.3837G>A
ENST00000482532.5:n.1664G>A
ENST00000484408.5:n.658G>A
ENST00000628793.2:c.199G>A ENSP00000486952.1:p.Gly67Ser
ENST00000652974.1:c.*381G>A ENSP00000499369.1:n.*381G>A
ENST00000655450.1:c.289G>A ENSP00000499266.1:p.Gly97Ser
ENST00000655728.1:c.289G>A ENSP00000499656.1:p.Gly97Ser
ENST00000656538.1:c.289G>A ENSP00000499357.1:p.Gly97Ser
ENST00000668667.1:c.289G>A ENSP00000499706.1:p.Gly97Ser
ENST00000670593.1:n.1302G>A