Canonical Allele Identifier: CA346719064

Gene: CALM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161755T>C , CM000664.2:g.47161755T>C	GRCh38
NC_000002.11:g.47388894T>C , CM000664.1:g.47388894T>C	GRCh37
NC_000002.10:g.47242398T>C	NCBI36
NG_042065.1:g.20182A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001743.6:c.389A>G MANE Select	NP_001734.1:p.Asp130Gly
ENST00000272298.12:c.389A>G MANE Select	ENSP00000272298.7:p.Asp130Gly
NM_001305624.1:c.533A>G	NP_001292553.1:p.Asp178Gly
NM_001305625.1:c.281A>G	NP_001292554.1:p.Asp94Gly
NM_001305625.2:c.281A>G	NP_001292554.1:p.Asp94Gly
NM_001305626.1:c.281A>G	NP_001292555.1:p.Asp94Gly
NM_001743.4:c.389A>G	NP_001734.1:p.Asp130Gly
NM_001743.5:c.389A>G	NP_001734.1:p.Asp130Gly
ENST00000272298.11:c.389A>G	ENSP00000272298.7:p.Asp130Gly
ENST00000409563.5:c.530A>G	ENSP00000387065.1:p.Asp177Gly
ENST00000422269.1:c.103-8739A>G
ENST00000432899.5:c.*84A>G	ENSP00000406112.1:n.*84A>G
ENST00000456319.5:c.503A>G	ENSP00000411440.1:p.Asp168Gly
ENST00000456319.6:c.281A>G	ENSP00000411440.2:p.Asp94Gly
ENST00000460218.5:n.3829A>G
ENST00000482532.5:n.1656A>G
ENST00000484408.5:n.650A>G
ENST00000628793.2:c.191A>G	ENSP00000486952.1:p.Asp64Gly
ENST00000652974.1:c.*373A>G	ENSP00000499369.1:n.*373A>G
ENST00000655450.1:c.281A>G	ENSP00000499266.1:p.Asp94Gly
ENST00000655728.1:c.281A>G	ENSP00000499656.1:p.Asp94Gly
ENST00000656538.1:c.281A>G	ENSP00000499357.1:p.Asp94Gly
ENST00000668667.1:c.281A>G	ENSP00000499706.1:p.Asp94Gly
ENST00000670593.1:n.1294A>G