Canonical Allele Identifier: CA414401297

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120447886A>T , CM000685.2:g.120447886A>T	GRCh38
NC_000023.10:g.119581741A>T , CM000685.1:g.119581741A>T	GRCh37
NC_000023.9:g.119465769A>T	NCBI36
NG_007995.1:g.26464T>A , LRG_749:g.26464T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002294.3:c.696T>A MANE Select	NP_002285.1:p.Cys232Ter
ENST00000200639.9:c.696T>A MANE Select	ENSP00000200639.4:p.Cys232Ter
NM_001122606.1:c.696T>A , LRG_749t3:c.696T>A	NP_001116078.1:p.Cys232Ter
NM_002294.2:c.696T>A , LRG_749t1:c.696T>A	NP_002285.1:p.Cys232Ter
NM_013995.2:c.696T>A , LRG_749t2:c.696T>A	NP_054701.1:p.Cys232Ter
ENST00000200639.8:c.696T>A	ENSP00000200639.4:p.Cys232Ter
ENST00000371335.4:c.696T>A	ENSP00000360386.4:p.Cys232Ter
ENST00000434600.6:c.696T>A	ENSP00000408411.2:p.Cys232Ter
ENST00000486593.5:c.239T>A
ENST00000706600.1:c.696T>A	ENSP00000516464.1:p.Cys232Ter