Canonical Allele Identifier: CA171018
Gene: ITM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 157606
ClinVar RCV Id: RCV000144939
dbSNP Id: rs606231283
MyVariant Identifiers: chr13:g.48835341A>C (hg19) chr13:g.48261205A>C (hg38)
PubMed: PMID:24026677
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48261205A>C , CM000675.2:g.48261205A>C GRCh38
NC_000013.10:g.48835341A>C , CM000675.1:g.48835341A>C GRCh37
NC_000013.9:g.47733342A>C NCBI36
NG_013069.1:g.33068A>C
NG_013069.2:g.33594A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463839.3:c.67A>C
ENST00000647800.2:c.782A>C MANE Select ENSP00000497221.1:p.Glu261Ala
ENST00000648312.1:n.830A>C
ENST00000648586.1:n.860A>C
ENST00000648898.1:n.712A>C
ENST00000649266.1:c.614A>C ENSP00000498127.1:p.Glu205Ala
ENST00000649452.1:c.*528A>C ENSP00000497877.1:n.*528A>C
ENST00000650237.1:c.194A>C
ENST00000378549.5:c.464A>C ENSP00000367811.5:p.Glu155Ala
ENST00000378565.9:c.782A>C ENSP00000367828.4:p.Glu261Ala
ENST00000463839.2:c.69A>C
NM_021999.4:c.782A>C NP_068839.1:p.Glu261Ala
NM_021999.5:c.782A>C MANE Select NP_068839.1:p.Glu261Ala
Search 100 bp 5'
Search 100 bp 3'