Canonical Allele Identifier: CA346719247

Gene: CALM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161831C>G , CM000664.2:g.47161831C>G	GRCh38
NC_000002.11:g.47388970C>G , CM000664.1:g.47388970C>G	GRCh37
NC_000002.10:g.47242474C>G	NCBI36
NG_042065.1:g.20106G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001743.6:c.313G>C MANE Select	NP_001734.1:p.Glu105Gln
ENST00000272298.12:c.313G>C MANE Select	ENSP00000272298.7:p.Glu105Gln
NM_001305624.1:c.457G>C	NP_001292553.1:p.Glu153Gln
NM_001305625.1:c.205G>C	NP_001292554.1:p.Glu69Gln
NM_001305625.2:c.205G>C	NP_001292554.1:p.Glu69Gln
NM_001305626.1:c.205G>C	NP_001292555.1:p.Glu69Gln
NM_001743.4:c.313G>C	NP_001734.1:p.Glu105Gln
NM_001743.5:c.313G>C	NP_001734.1:p.Glu105Gln
ENST00000272298.11:c.313G>C	ENSP00000272298.7:p.Glu105Gln
ENST00000409563.5:c.454G>C	ENSP00000387065.1:p.Glu152Gln
ENST00000422269.1:c.103-8815G>C
ENST00000432899.5:c.*8G>C	ENSP00000406112.1:n.*8G>C
ENST00000456319.5:c.427G>C	ENSP00000411440.1:p.Glu143Gln
ENST00000456319.6:c.205G>C	ENSP00000411440.2:p.Glu69Gln
ENST00000460218.5:n.3753G>C
ENST00000482532.5:n.1580G>C
ENST00000484408.5:n.574G>C
ENST00000628793.2:c.166-51G>C	ENSP00000486952.1:n.166-51G>C
ENST00000652974.1:c.*297G>C	ENSP00000499369.1:n.*297G>C
ENST00000655450.1:c.205G>C	ENSP00000499266.1:p.Glu69Gln
ENST00000655728.1:c.205G>C	ENSP00000499656.1:p.Glu69Gln
ENST00000656538.1:c.205G>C	ENSP00000499357.1:p.Glu69Gln
ENST00000668667.1:c.205G>C	ENSP00000499706.1:p.Glu69Gln
ENST00000670593.1:n.1218G>C