Canonical Allele Identifier: CA346719361

Gene: CALM2

Linked Data

• ClinVar Variation Id: 2734184
• ClinVar RCV Id: RCV003501689
• MyVariant Identifiers: chr2:g.47389442A>G (hg19) ; chr2:g.47162303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162303A>G , CM000664.2:g.47162303A>G	GRCh38
NC_000002.11:g.47389442A>G , CM000664.1:g.47389442A>G	GRCh37
NC_000002.10:g.47242946A>G	NCBI36
NG_042065.1:g.19634T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272298.12:c.268T>C MANE Select	ENSP00000272298.7:p.Phe90Leu
ENST00000456319.6:c.160T>C	ENSP00000411440.2:p.Phe54Leu
ENST00000652974.1:c.*252T>C	ENSP00000499369.1:n.*252T>C
ENST00000655450.1:c.160T>C	ENSP00000499266.1:p.Phe54Leu
ENST00000655728.1:c.160T>C	ENSP00000499656.1:p.Phe54Leu
ENST00000656538.1:c.160T>C	ENSP00000499357.1:p.Phe54Leu
ENST00000668667.1:c.160T>C	ENSP00000499706.1:p.Phe54Leu
ENST00000670593.1:n.1173T>C
ENST00000272298.11:c.268T>C	ENSP00000272298.7:p.Phe90Leu
ENST00000409563.5:c.409T>C	ENSP00000387065.1:p.Phe137Leu
ENST00000422269.1:c.102+8431T>C
ENST00000432899.5:c.178+216T>C	ENSP00000406112.1:n.178+216T>C
ENST00000456319.5:c.382T>C	ENSP00000411440.1:p.Phe128Leu
ENST00000460218.5:n.3708T>C
ENST00000482532.5:n.1535T>C
ENST00000484408.5:n.529T>C
ENST00000489742.1:n.505T>C
ENST00000628793.2:c.165+229T>C	ENSP00000486952.1:n.165+229T>C
NM_001305624.1:c.412T>C	NP_001292553.1:p.Phe138Leu
NM_001305625.1:c.160T>C	NP_001292554.1:p.Phe54Leu
NM_001305626.1:c.160T>C	NP_001292555.1:p.Phe54Leu
NM_001743.4:c.268T>C	NP_001734.1:p.Phe90Leu
NM_001743.5:c.268T>C	NP_001734.1:p.Phe90Leu
NM_001743.6:c.268T>C MANE Select	NP_001734.1:p.Phe90Leu
NM_001305625.2:c.160T>C	NP_001292554.1:p.Phe54Leu