Canonical Allele Identifier: CA346719214

Gene: CALM2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161816T>G , CM000664.2:g.47161816T>G	GRCh38
NC_000002.11:g.47388955T>G , CM000664.1:g.47388955T>G	GRCh37
NC_000002.10:g.47242459T>G	NCBI36
NG_042065.1:g.20121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.328A>C MANE Select	ENSP00000272298.7:p.Met110Leu
ENST00000456319.6:c.220A>C	ENSP00000411440.2:p.Met74Leu
ENST00000652974.1:c.*312A>C	ENSP00000499369.1:n.*312A>C
ENST00000655450.1:c.220A>C	ENSP00000499266.1:p.Met74Leu
ENST00000655728.1:c.220A>C	ENSP00000499656.1:p.Met74Leu
ENST00000656538.1:c.220A>C	ENSP00000499357.1:p.Met74Leu
ENST00000668667.1:c.220A>C	ENSP00000499706.1:p.Met74Leu
ENST00000670593.1:n.1233A>C
ENST00000272298.11:c.328A>C	ENSP00000272298.7:p.Met110Leu
ENST00000409563.5:c.469A>C	ENSP00000387065.1:p.Met157Leu
ENST00000422269.1:c.103-8800A>C
ENST00000432899.5:c.*23A>C	ENSP00000406112.1:n.*23A>C
ENST00000456319.5:c.442A>C	ENSP00000411440.1:p.Met148Leu
ENST00000460218.5:n.3768A>C
ENST00000482532.5:n.1595A>C
ENST00000484408.5:n.589A>C
ENST00000628793.2:c.166-36A>C	ENSP00000486952.1:n.166-36A>C
NM_001305624.1:c.472A>C	NP_001292553.1:p.Met158Leu
NM_001305625.1:c.220A>C	NP_001292554.1:p.Met74Leu
NM_001305626.1:c.220A>C	NP_001292555.1:p.Met74Leu
NM_001743.4:c.328A>C	NP_001734.1:p.Met110Leu
NM_001743.5:c.328A>C	NP_001734.1:p.Met110Leu
NM_001743.6:c.328A>C MANE Select	NP_001734.1:p.Met110Leu
NM_001305625.2:c.220A>C	NP_001292554.1:p.Met74Leu