Canonical Allele Identifier: CA346719379

Gene: CALM2

Linked Data

• gnomAD v4: 2-47162311-C-A
• MyVariant Identifiers: chr2:g.47389450C>A (hg19) ; chr2:g.47162311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162311C>A , CM000664.2:g.47162311C>A	GRCh38
NC_000002.11:g.47389450C>A , CM000664.1:g.47389450C>A	GRCh37
NC_000002.10:g.47242954C>A	NCBI36
NG_042065.1:g.19626G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272298.12:c.260G>T MANE Select	ENSP00000272298.7:p.Arg87Ile
ENST00000456319.6:c.152G>T	ENSP00000411440.2:p.Arg51Ile
ENST00000652974.1:c.*244G>T	ENSP00000499369.1:n.*244G>T
ENST00000655450.1:c.152G>T	ENSP00000499266.1:p.Arg51Ile
ENST00000655728.1:c.152G>T	ENSP00000499656.1:p.Arg51Ile
ENST00000656538.1:c.152G>T	ENSP00000499357.1:p.Arg51Ile
ENST00000668667.1:c.152G>T	ENSP00000499706.1:p.Arg51Ile
ENST00000670593.1:n.1165G>T
ENST00000272298.11:c.260G>T	ENSP00000272298.7:p.Arg87Ile
ENST00000409563.5:c.401G>T	ENSP00000387065.1:p.Arg134Ile
ENST00000422269.1:c.102+8423G>T
ENST00000432899.5:c.178+208G>T	ENSP00000406112.1:n.178+208G>T
ENST00000456319.5:c.374G>T	ENSP00000411440.1:p.Arg125Ile
ENST00000460218.5:n.3700G>T
ENST00000482532.5:n.1527G>T
ENST00000484408.5:n.521G>T
ENST00000489742.1:n.497G>T
ENST00000628793.2:c.165+221G>T	ENSP00000486952.1:n.165+221G>T
NM_001305624.1:c.404G>T	NP_001292553.1:p.Arg135Ile
NM_001305625.1:c.152G>T	NP_001292554.1:p.Arg51Ile
NM_001305626.1:c.152G>T	NP_001292555.1:p.Arg51Ile
NM_001743.4:c.260G>T	NP_001734.1:p.Arg87Ile
NM_001743.5:c.260G>T	NP_001734.1:p.Arg87Ile
NM_001743.6:c.260G>T MANE Select	NP_001734.1:p.Arg87Ile
NM_001305625.2:c.152G>T	NP_001292554.1:p.Arg51Ile