Canonical Allele Identifier: CA346719388

Gene: CALM2

Linked Data

• MyVariant Identifiers: chr2:g.47389454T>A (hg19) ; chr2:g.47162315T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47162315T>A , CM000664.2:g.47162315T>A	GRCh38
NC_000002.11:g.47389454T>A , CM000664.1:g.47389454T>A	GRCh37
NC_000002.10:g.47242958T>A	NCBI36
NG_042065.1:g.19622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272298.12:c.256A>T MANE Select	ENSP00000272298.7:p.Ile86Phe
ENST00000456319.6:c.148A>T	ENSP00000411440.2:p.Ile50Phe
ENST00000652974.1:c.*240A>T	ENSP00000499369.1:n.*240A>T
ENST00000655450.1:c.148A>T	ENSP00000499266.1:p.Ile50Phe
ENST00000655728.1:c.148A>T	ENSP00000499656.1:p.Ile50Phe
ENST00000656538.1:c.148A>T	ENSP00000499357.1:p.Ile50Phe
ENST00000668667.1:c.148A>T	ENSP00000499706.1:p.Ile50Phe
ENST00000670593.1:n.1161A>T
ENST00000272298.11:c.256A>T	ENSP00000272298.7:p.Ile86Phe
ENST00000409563.5:c.397A>T	ENSP00000387065.1:p.Ile133Phe
ENST00000422269.1:c.102+8419A>T
ENST00000432899.5:c.178+204A>T	ENSP00000406112.1:n.178+204A>T
ENST00000456319.5:c.370A>T	ENSP00000411440.1:p.Ile124Phe
ENST00000460218.5:n.3696A>T
ENST00000482532.5:n.1523A>T
ENST00000484408.5:n.517A>T
ENST00000489742.1:n.493A>T
ENST00000628793.2:c.165+217A>T	ENSP00000486952.1:n.165+217A>T
NM_001305624.1:c.400A>T	NP_001292553.1:p.Ile134Phe
NM_001305625.1:c.148A>T	NP_001292554.1:p.Ile50Phe
NM_001305626.1:c.148A>T	NP_001292555.1:p.Ile50Phe
NM_001743.4:c.256A>T	NP_001734.1:p.Ile86Phe
NM_001743.5:c.256A>T	NP_001734.1:p.Ile86Phe
NM_001743.6:c.256A>T MANE Select	NP_001734.1:p.Ile86Phe
NM_001305625.2:c.148A>T	NP_001292554.1:p.Ile50Phe