Canonical Allele Identifier: CA414401871

Gene: LAMP2

Linked Data

• MyVariant Identifiers: chrX:g.119582839G>A (hg19) ; chrX:g.120448984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448984G>A , CM000685.2:g.120448984G>A	GRCh38
NC_000023.10:g.119582839G>A , CM000685.1:g.119582839G>A	GRCh37
NC_000023.9:g.119466867G>A	NCBI36
NG_007995.1:g.25366C>T , LRG_749:g.25366C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.542C>T	ENSP00000516464.1:p.Thr181Ile
ENST00000200639.9:c.542C>T MANE Select	ENSP00000200639.4:p.Thr181Ile
ENST00000200639.8:c.542C>T	ENSP00000200639.4:p.Thr181Ile
ENST00000371335.4:c.542C>T	ENSP00000360386.4:p.Thr181Ile
ENST00000434600.6:c.542C>T	ENSP00000408411.2:p.Thr181Ile
ENST00000486593.5:c.85C>T
NM_001122606.1:c.542C>T , LRG_749t3:c.542C>T	NP_001116078.1:p.Thr181Ile
NM_002294.2:c.542C>T , LRG_749t1:c.542C>T	NP_002285.1:p.Thr181Ile
NM_013995.2:c.542C>T , LRG_749t2:c.542C>T	NP_054701.1:p.Thr181Ile
NM_002294.3:c.542C>T MANE Select	NP_002285.1:p.Thr181Ile