Canonical Allele Identifier: CA186022

Gene: CALM2

Linked Data

• ClinVar Variation Id: 96723
• ClinVar RCV Id: RCV000143839 ; RCV000162066
• dbSNP Id: rs398124650
• MyVariant Identifiers: chr2:g.47388883C>G (hg19) ; chr2:g.47161744C>G (hg38)
• PubMed: PMID:24917665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161744C>G , CM000664.2:g.47161744C>G	GRCh38
NC_000002.11:g.47388883C>G , CM000664.1:g.47388883C>G	GRCh37
NC_000002.10:g.47242387C>G	NCBI36
NG_042065.1:g.20193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.400G>C MANE Select	ENSP00000272298.7:p.Asp134His
ENST00000456319.6:c.292G>C	ENSP00000411440.2:p.Asp98His
ENST00000652974.1:c.*384G>C	ENSP00000499369.1:n.*384G>C
ENST00000655450.1:c.292G>C	ENSP00000499266.1:p.Asp98His
ENST00000655728.1:c.292G>C	ENSP00000499656.1:p.Asp98His
ENST00000656538.1:c.292G>C	ENSP00000499357.1:p.Asp98His
ENST00000668667.1:c.292G>C	ENSP00000499706.1:p.Asp98His
ENST00000670593.1:n.1305G>C
ENST00000272298.11:c.400G>C	ENSP00000272298.7:p.Asp134His
ENST00000409563.5:c.541G>C	ENSP00000387065.1:p.Asp181His
ENST00000422269.1:c.103-8728G>C
ENST00000432899.5:c.*95G>C	ENSP00000406112.1:n.*95G>C
ENST00000456319.5:c.514G>C	ENSP00000411440.1:p.Asp172His
ENST00000460218.5:n.3840G>C
ENST00000482532.5:n.1667G>C
ENST00000484408.5:n.661G>C
ENST00000628793.2:c.202G>C	ENSP00000486952.1:p.Asp68His
NM_001305624.1:c.544G>C	NP_001292553.1:p.Asp182His
NM_001305625.1:c.292G>C	NP_001292554.1:p.Asp98His
NM_001305626.1:c.292G>C	NP_001292555.1:p.Asp98His
NM_001743.4:c.400G>C	NP_001734.1:p.Asp134His
NM_001743.5:c.400G>C	NP_001734.1:p.Asp134His
NM_001743.6:c.400G>C MANE Select	NP_001734.1:p.Asp134His
NM_001305625.2:c.292G>C	NP_001292554.1:p.Asp98His