Canonical Allele Identifier: CA388252299

Gene: ITM2B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48261223G>T , CM000675.2:g.48261223G>T	GRCh38
NC_000013.10:g.48835359G>T , CM000675.1:g.48835359G>T	GRCh37
NC_000013.9:g.47733360G>T	NCBI36
NG_013069.1:g.33086G>T
NG_013069.2:g.33612G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021999.5:c.800G>T MANE Select	NP_068839.1:p.Ter267Leu
ENST00000647800.2:c.800G>T MANE Select	ENSP00000497221.1:p.Ter267Leu
NM_021999.4:c.800G>T	NP_068839.1:p.Ter267Leu
ENST00000378549.5:c.482G>T	ENSP00000367811.5:p.Ter161Leu
ENST00000378565.9:c.800G>T	ENSP00000367828.4:p.Ter267Leu
ENST00000463839.2:c.87G>T
ENST00000463839.3:c.85G>T
ENST00000648312.1:n.848G>T
ENST00000648586.1:n.878G>T
ENST00000648898.1:n.730G>T
ENST00000649266.1:c.632G>T	ENSP00000498127.1:p.Ter211Leu
ENST00000649452.1:c.*546G>T	ENSP00000497877.1:n.*546G>T
ENST00000650237.1:c.212G>T