Canonical Allele Identifier: CA414402295

Gene: LAMP2

Linked Data

• MyVariant Identifiers: chrX:g.119582953A>G (hg19) ; chrX:g.120449098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449098A>G , CM000685.2:g.120449098A>G	GRCh38
NC_000023.10:g.119582953A>G , CM000685.1:g.119582953A>G	GRCh37
NC_000023.9:g.119466981A>G	NCBI36
NG_007995.1:g.25252T>C , LRG_749:g.25252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.428T>C	ENSP00000516464.1:p.Ile143Thr
ENST00000200639.9:c.428T>C MANE Select	ENSP00000200639.4:p.Ile143Thr
ENST00000200639.8:c.428T>C	ENSP00000200639.4:p.Ile143Thr
ENST00000371335.4:c.428T>C	ENSP00000360386.4:p.Ile143Thr
ENST00000434600.6:c.428T>C	ENSP00000408411.2:p.Ile143Thr
NM_001122606.1:c.428T>C , LRG_749t3:c.428T>C	NP_001116078.1:p.Ile143Thr
NM_002294.2:c.428T>C , LRG_749t1:c.428T>C	NP_002285.1:p.Ile143Thr
NM_013995.2:c.428T>C , LRG_749t2:c.428T>C	NP_054701.1:p.Ile143Thr
NM_002294.3:c.428T>C MANE Select	NP_002285.1:p.Ile143Thr