Canonical Allele Identifier: CA346719356

Gene: CALM2

Linked Data

• gnomAD v4: 2-47162301-G-T
• MyVariant Identifiers: chr2:g.47389440G>T (hg19) ; chr2:g.47162301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162301G>T , CM000664.2:g.47162301G>T	GRCh38
NC_000002.11:g.47389440G>T , CM000664.1:g.47389440G>T	GRCh37
NC_000002.10:g.47242944G>T	NCBI36
NG_042065.1:g.19636C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272298.12:c.270C>A MANE Select	ENSP00000272298.7:p.Phe90Leu
ENST00000456319.6:c.162C>A	ENSP00000411440.2:p.Phe54Leu
ENST00000652974.1:c.*254C>A	ENSP00000499369.1:n.*254C>A
ENST00000655450.1:c.162C>A	ENSP00000499266.1:p.Phe54Leu
ENST00000655728.1:c.162C>A	ENSP00000499656.1:p.Phe54Leu
ENST00000656538.1:c.162C>A	ENSP00000499357.1:p.Phe54Leu
ENST00000668667.1:c.162C>A	ENSP00000499706.1:p.Phe54Leu
ENST00000670593.1:n.1175C>A
ENST00000272298.11:c.270C>A	ENSP00000272298.7:p.Phe90Leu
ENST00000409563.5:c.411C>A	ENSP00000387065.1:p.Phe137Leu
ENST00000422269.1:c.102+8433C>A
ENST00000432899.5:c.178+218C>A	ENSP00000406112.1:n.178+218C>A
ENST00000456319.5:c.384C>A	ENSP00000411440.1:p.Phe128Leu
ENST00000460218.5:n.3710C>A
ENST00000482532.5:n.1537C>A
ENST00000484408.5:n.531C>A
ENST00000489742.1:n.507C>A
ENST00000628793.2:c.165+231C>A	ENSP00000486952.1:n.165+231C>A
NM_001305624.1:c.414C>A	NP_001292553.1:p.Phe138Leu
NM_001305625.1:c.162C>A	NP_001292554.1:p.Phe54Leu
NM_001305626.1:c.162C>A	NP_001292555.1:p.Phe54Leu
NM_001743.4:c.270C>A	NP_001734.1:p.Phe90Leu
NM_001743.5:c.270C>A	NP_001734.1:p.Phe90Leu
NM_001743.6:c.270C>A MANE Select	NP_001734.1:p.Phe90Leu
NM_001305625.2:c.162C>A	NP_001292554.1:p.Phe54Leu