Canonical Allele Identifier: CA532704619

Gene: CALM2

Linked Data

• ClinVar Variation Id: 1106661
• ClinVar RCV Id: RCV002236309
• dbSNP Id: rs1558694867
• gnomAD v2: 2-47389540-GTTTAGTGGAAACATCAAAGC-G
• gnomAD v4: 2-47162401-GTTTAGTGGAAACATCAAAGC-G
• MyVariant Identifiers: chr2:g.47389541_47389560del (hg19) ; chr2:g.47162402_47162421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162416_47162435del , CM000664.2:g.47162416_47162435del	GRCh38
NC_000002.11:g.47389555_47389574del , CM000664.1:g.47389555_47389574del	GRCh37
NC_000002.10:g.47243059_47243078del	NCBI36
NG_042065.1:g.19516_19535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.179-29_179-10del MANE Select	ENSP00000272298.7:n.179-29_179-10del
ENST00000456319.6:c.71-29_71-10del	ENSP00000411440.2:n.71-29_71-10del
ENST00000652974.1:c.*163-29_*163-10del	ENSP00000499369.1:n.*163-29_*163-10del
ENST00000655450.1:c.71-29_71-10del	ENSP00000499266.1:n.71-29_71-10del
ENST00000655728.1:c.71-29_71-10del	ENSP00000499656.1:n.71-29_71-10del
ENST00000656538.1:c.71-29_71-10del	ENSP00000499357.1:n.71-29_71-10del
ENST00000668667.1:c.71-29_71-10del	ENSP00000499706.1:n.71-29_71-10del
ENST00000670593.1:n.1084-29_1084-10del
ENST00000272298.11:c.179-29_179-10del	ENSP00000272298.7:n.179-29_179-10del
ENST00000409563.5:c.320-29_320-10del	ENSP00000387065.1:n.320-29_320-10del
ENST00000422269.1:c.102+8313_102+8332del
ENST00000432899.5:c.178+98_178+117del	ENSP00000406112.1:n.178+98_178+117del
ENST00000456319.5:c.293-29_293-10del	ENSP00000411440.1:n.293-29_293-10del
ENST00000460218.5:n.3619-29_3619-10del
ENST00000482532.5:n.1446-29_1446-10del
ENST00000484408.5:n.440-29_440-10del
ENST00000489742.1:n.416-29_416-10del
ENST00000628793.2:c.165+111_165+130del	ENSP00000486952.1:n.165+111_165+130del
NM_001305624.1:c.323-29_323-10del	NP_001292553.1:n.323-29_323-10del
NM_001305625.1:c.71-29_71-10del	NP_001292554.1:n.71-29_71-10del
NM_001305626.1:c.71-29_71-10del	NP_001292555.1:n.71-29_71-10del
NM_001743.4:c.179-29_179-10del	NP_001734.1:n.179-29_179-10del
NM_001743.5:c.179-29_179-10del	NP_001734.1:n.179-29_179-10del
NM_001743.6:c.179-29_179-10del MANE Select	NP_001734.1:n.179-29_179-10del
NM_001305625.2:c.71-29_71-10del	NP_001292554.1:n.71-29_71-10del