Canonical Allele Identifier: CA2089931365
Community Standard Title: NM_021999.5(ITM2B):c.799T= (p.Ter267=)
Gene: ITM2B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_021999.5:c.799T= MANE Select NP_068839.1:p.Ter267=
ENST00000647800.2:c.799T= MANE Select ENSP00000497221.1:p.Ter267=
NM_021999.4:c.799T= NP_068839.1:p.Ter267=
ENST00000378549.5:c.481T= ENSP00000367811.5:p.Ter161=
ENST00000378565.9:c.799T= ENSP00000367828.4:p.Ter267=
ENST00000463839.2:c.86T=
ENST00000463839.3:c.84T=
ENST00000648312.1:n.847T=
ENST00000648586.1:n.877T=
ENST00000648898.1:n.729T=
ENST00000649266.1:c.631T= ENSP00000498127.1:p.Ter211=
ENST00000649452.1:c.*545T= ENSP00000497877.1:n.*545T=
ENST00000650237.1:c.211T=