Canonical Allele Identifier: CA117883

Gene: ITM2B

Linked Data

• ClinVar Variation Id: 5979
• ClinVar RCV Id: RCV000006345
• dbSNP Id: rs104894417
• MyVariant Identifiers: chr13:g.48835358T>A (hg19) ; chr13:g.48261222T>A (hg38)
• PubMed: PMID:10391242 ; PMID:21610757

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48261222T>A , CM000675.2:g.48261222T>A	GRCh38
NC_000013.10:g.48835358T>A , CM000675.1:g.48835358T>A	GRCh37
NC_000013.9:g.47733359T>A	NCBI36
NG_013069.1:g.33085T>A
NG_013069.2:g.33611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463839.3:c.84T>A
ENST00000647800.2:c.799T>A MANE Select	ENSP00000497221.1:p.Ter267Arg
ENST00000648312.1:n.847T>A
ENST00000648586.1:n.877T>A
ENST00000648898.1:n.729T>A
ENST00000649266.1:c.631T>A	ENSP00000498127.1:p.Ter211Arg
ENST00000649452.1:c.*545T>A	ENSP00000497877.1:n.*545T>A
ENST00000650237.1:c.211T>A
ENST00000378549.5:c.481T>A	ENSP00000367811.5:p.Ter161Arg
ENST00000378565.9:c.799T>A	ENSP00000367828.4:p.Ter267Arg
ENST00000463839.2:c.86T>A
NM_021999.4:c.799T>A	NP_068839.1:p.Ter267Arg
NM_021999.5:c.799T>A MANE Select	NP_068839.1:p.Ter267Arg