Canonical Allele Identifier: CA46691498

Gene: CALM2

Linked Data

• ClinVar Variation Id: 2079422
• ClinVar RCV Id: RCV002995362
• dbSNP Id: rs747307571
• gnomAD v2: 2-47389546-T-C
• gnomAD v3: 2-47162407-T-C
• gnomAD v4: 2-47162407-T-C
• MyVariant Identifiers: chr2:g.47389546T>C (hg19) ; chr2:g.47162407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162407T>C , CM000664.2:g.47162407T>C	GRCh38
NC_000002.11:g.47389546T>C , CM000664.1:g.47389546T>C	GRCh37
NC_000002.10:g.47243050T>C	NCBI36
NG_042065.1:g.19530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.179-15A>G MANE Select	ENSP00000272298.7:n.179-15A>G
ENST00000456319.6:c.71-15A>G	ENSP00000411440.2:n.71-15A>G
ENST00000652974.1:c.*163-15A>G	ENSP00000499369.1:n.*163-15A>G
ENST00000655450.1:c.71-15A>G	ENSP00000499266.1:n.71-15A>G
ENST00000655728.1:c.71-15A>G	ENSP00000499656.1:n.71-15A>G
ENST00000656538.1:c.71-15A>G	ENSP00000499357.1:n.71-15A>G
ENST00000668667.1:c.71-15A>G	ENSP00000499706.1:n.71-15A>G
ENST00000670593.1:n.1084-15A>G
ENST00000272298.11:c.179-15A>G	ENSP00000272298.7:n.179-15A>G
ENST00000409563.5:c.320-15A>G	ENSP00000387065.1:n.320-15A>G
ENST00000422269.1:c.102+8327A>G
ENST00000432899.5:c.178+112A>G	ENSP00000406112.1:n.178+112A>G
ENST00000456319.5:c.293-15A>G	ENSP00000411440.1:n.293-15A>G
ENST00000460218.5:n.3619-15A>G
ENST00000482532.5:n.1446-15A>G
ENST00000484408.5:n.440-15A>G
ENST00000489742.1:n.416-15A>G
ENST00000628793.2:c.165+125A>G	ENSP00000486952.1:n.165+125A>G
NM_001305624.1:c.323-15A>G	NP_001292553.1:n.323-15A>G
NM_001305625.1:c.71-15A>G	NP_001292554.1:n.71-15A>G
NM_001305626.1:c.71-15A>G	NP_001292555.1:n.71-15A>G
NM_001743.4:c.179-15A>G	NP_001734.1:n.179-15A>G
NM_001743.5:c.179-15A>G	NP_001734.1:n.179-15A>G
NM_001743.6:c.179-15A>G MANE Select	NP_001734.1:n.179-15A>G
NM_001305625.2:c.71-15A>G	NP_001292554.1:n.71-15A>G