Canonical Allele Identifier: CA388252296

Gene: ITM2B

Linked Data

• MyVariant Identifiers: chr13:g.48835358T>C (hg19) ; chr13:g.48261222T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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