Canonical Allele Identifier: CA2495693322
Gene: CALM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2721251
ClinVar RCV Id: RCV003501470
dbSNP Id: rs1687162623

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47161712G>A , CM000664.2:g.47161712G>A GRCh38
NC_000002.11:g.47388851G>A , CM000664.1:g.47388851G>A GRCh37
NC_000002.10:g.47242355G>A NCBI36
NG_042065.1:g.20225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272298.12:c.421+11C>T MANE Select ENSP00000272298.7:n.421+11C>T
ENST00000456319.6:c.313+11C>T ENSP00000411440.2:n.313+11C>T
ENST00000652974.1:c.*405+11C>T ENSP00000499369.1:n.*405+11C>T
ENST00000655450.1:c.313+11C>T ENSP00000499266.1:n.313+11C>T
ENST00000655728.1:c.313+11C>T ENSP00000499656.1:n.313+11C>T
ENST00000656538.1:c.313+11C>T ENSP00000499357.1:n.313+11C>T
ENST00000668667.1:c.313+11C>T ENSP00000499706.1:n.313+11C>T
ENST00000670593.1:n.1326+11C>T
ENST00000272298.11:c.421+11C>T ENSP00000272298.7:n.421+11C>T
ENST00000409563.5:c.562+11C>T ENSP00000387065.1:n.562+11C>T
ENST00000422269.1:c.103-8696C>T
ENST00000432899.5:c.*116+11C>T ENSP00000406112.1:n.*116+11C>T
ENST00000456319.5:c.535+11C>T ENSP00000411440.1:n.535+11C>T
ENST00000460218.5:n.3861+11C>T
ENST00000482532.5:n.1688+11C>T
ENST00000628793.2:c.223+11C>T ENSP00000486952.1:n.223+11C>T
NM_001305624.1:c.565+11C>T NP_001292553.1:n.565+11C>T
NM_001305625.1:c.313+11C>T NP_001292554.1:n.313+11C>T
NM_001305626.1:c.313+11C>T NP_001292555.1:n.313+11C>T
NM_001743.4:c.421+11C>T NP_001734.1:n.421+11C>T
NM_001743.5:c.421+11C>T NP_001734.1:n.421+11C>T
NM_001743.6:c.421+11C>T MANE Select NP_001734.1:n.421+11C>T
NM_001305625.2:c.313+11C>T NP_001292554.1:n.313+11C>T