Canonical Allele Identifier: CA346719008

Gene: CALM2

Linked Data

• ClinVar Variation Id: 488476
• ClinVar RCV Id: RCV000578313
• dbSNP Id: rs1553431702
• MyVariant Identifiers: chr2:g.47388869G>C (hg19) ; chr2:g.47161730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161730G>C , CM000664.2:g.47161730G>C	GRCh38
NC_000002.11:g.47388869G>C , CM000664.1:g.47388869G>C	GRCh37
NC_000002.10:g.47242373G>C	NCBI36
NG_042065.1:g.20207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.414C>G MANE Select	ENSP00000272298.7:p.Asn138Lys
ENST00000456319.6:c.306C>G	ENSP00000411440.2:p.Asn102Lys
ENST00000652974.1:c.*398C>G	ENSP00000499369.1:n.*398C>G
ENST00000655450.1:c.306C>G	ENSP00000499266.1:p.Asn102Lys
ENST00000655728.1:c.306C>G	ENSP00000499656.1:p.Asn102Lys
ENST00000656538.1:c.306C>G	ENSP00000499357.1:p.Asn102Lys
ENST00000668667.1:c.306C>G	ENSP00000499706.1:p.Asn102Lys
ENST00000670593.1:n.1319C>G
ENST00000272298.11:c.414C>G	ENSP00000272298.7:p.Asn138Lys
ENST00000409563.5:c.555C>G	ENSP00000387065.1:p.Asn185Lys
ENST00000422269.1:c.103-8714C>G
ENST00000432899.5:c.*109C>G	ENSP00000406112.1:n.*109C>G
ENST00000456319.5:c.528C>G	ENSP00000411440.1:p.Asn176Lys
ENST00000460218.5:n.3854C>G
ENST00000482532.5:n.1681C>G
ENST00000484408.5:n.675C>G
ENST00000628793.2:c.216C>G	ENSP00000486952.1:p.Asn72Lys
NM_001305624.1:c.558C>G	NP_001292553.1:p.Asn186Lys
NM_001305625.1:c.306C>G	NP_001292554.1:p.Asn102Lys
NM_001305626.1:c.306C>G	NP_001292555.1:p.Asn102Lys
NM_001743.4:c.414C>G	NP_001734.1:p.Asn138Lys
NM_001743.5:c.414C>G	NP_001734.1:p.Asn138Lys
NM_001743.6:c.414C>G MANE Select	NP_001734.1:p.Asn138Lys
NM_001305625.2:c.306C>G	NP_001292554.1:p.Asn102Lys