Canonical Allele Identifier: CA426119040
Gene: CALM2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.47389443T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47162304T>C , CM000664.2:g.47162304T>C GRCh38
NC_000002.11:g.47389443T>C , CM000664.1:g.47389443T>C GRCh37
NC_000002.10:g.47242947T>C NCBI36
NG_042065.1:g.19633A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272298.12:c.267A>G MANE Select ENSP00000272298.7:p.Ala89=
ENST00000456319.6:c.159A>G ENSP00000411440.2:p.Ala53=
ENST00000652974.1:c.*251A>G ENSP00000499369.1:n.*251A>G
ENST00000655450.1:c.159A>G ENSP00000499266.1:p.Ala53=
ENST00000655728.1:c.159A>G ENSP00000499656.1:p.Ala53=
ENST00000656538.1:c.159A>G ENSP00000499357.1:p.Ala53=
ENST00000668667.1:c.159A>G ENSP00000499706.1:p.Ala53=
ENST00000670593.1:n.1172A>G
ENST00000272298.11:c.267A>G ENSP00000272298.7:p.Ala89=
ENST00000409563.5:c.408A>G ENSP00000387065.1:p.Ala136=
ENST00000422269.1:c.102+8430A>G
ENST00000432899.5:c.178+215A>G ENSP00000406112.1:n.178+215A>G
ENST00000456319.5:c.381A>G ENSP00000411440.1:p.Ala127=
ENST00000460218.5:n.3707A>G
ENST00000482532.5:n.1534A>G
ENST00000484408.5:n.528A>G
ENST00000489742.1:n.504A>G
ENST00000628793.2:c.165+228A>G ENSP00000486952.1:n.165+228A>G
NM_001305624.1:c.411A>G NP_001292553.1:p.Ala137=
NM_001305625.1:c.159A>G NP_001292554.1:p.Ala53=
NM_001305626.1:c.159A>G NP_001292555.1:p.Ala53=
NM_001743.4:c.267A>G NP_001734.1:p.Ala89=
NM_001743.5:c.267A>G NP_001734.1:p.Ala89=
NM_001743.6:c.267A>G MANE Select NP_001734.1:p.Ala89=
NM_001305625.2:c.159A>G NP_001292554.1:p.Ala53=