Canonical Allele Identifier: CA346719068

Gene: CALM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161756C>T , CM000664.2:g.47161756C>T	GRCh38
NC_000002.11:g.47388895C>T , CM000664.1:g.47388895C>T	GRCh37
NC_000002.10:g.47242399C>T	NCBI36
NG_042065.1:g.20181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001743.6:c.388G>A MANE Select	NP_001734.1:p.Asp130Asn
ENST00000272298.12:c.388G>A MANE Select	ENSP00000272298.7:p.Asp130Asn
NM_001305624.1:c.532G>A	NP_001292553.1:p.Asp178Asn
NM_001305625.1:c.280G>A	NP_001292554.1:p.Asp94Asn
NM_001305625.2:c.280G>A	NP_001292554.1:p.Asp94Asn
NM_001305626.1:c.280G>A	NP_001292555.1:p.Asp94Asn
NM_001743.4:c.388G>A	NP_001734.1:p.Asp130Asn
NM_001743.5:c.388G>A	NP_001734.1:p.Asp130Asn
ENST00000272298.11:c.388G>A	ENSP00000272298.7:p.Asp130Asn
ENST00000409563.5:c.529G>A	ENSP00000387065.1:p.Asp177Asn
ENST00000422269.1:c.103-8740G>A
ENST00000432899.5:c.*83G>A	ENSP00000406112.1:n.*83G>A
ENST00000456319.5:c.502G>A	ENSP00000411440.1:p.Asp168Asn
ENST00000456319.6:c.280G>A	ENSP00000411440.2:p.Asp94Asn
ENST00000460218.5:n.3828G>A
ENST00000482532.5:n.1655G>A
ENST00000484408.5:n.649G>A
ENST00000628793.2:c.190G>A	ENSP00000486952.1:p.Asp64Asn
ENST00000652974.1:c.*372G>A	ENSP00000499369.1:n.*372G>A
ENST00000655450.1:c.280G>A	ENSP00000499266.1:p.Asp94Asn
ENST00000655728.1:c.280G>A	ENSP00000499656.1:p.Asp94Asn
ENST00000656538.1:c.280G>A	ENSP00000499357.1:p.Asp94Asn
ENST00000668667.1:c.280G>A	ENSP00000499706.1:p.Asp94Asn
ENST00000670593.1:n.1293G>A