Canonical Allele Identifier: CA658799854

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 517069
• ClinVar RCV Id: RCV000601267
• dbSNP Id: rs1354020682
• gnomAD v4: X-120469207-C-G
• MyVariant Identifiers: chrX:g.119603062C>G (hg19) ; chrX:g.120469207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469207C>G , CM000685.2:g.120469207C>G	GRCh38
NC_000023.10:g.119603062C>G , CM000685.1:g.119603062C>G	GRCh37
NC_000023.9:g.119487090C>G	NCBI36
NG_007995.1:g.5143G>C , LRG_749:g.5143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-38G>C	ENSP00000516464.1:n.-38G>C
ENST00000200639.9:c.-38G>C MANE Select	ENSP00000200639.4:n.-38G>C
ENST00000200639.8:c.-38G>C	ENSP00000200639.4:n.-38G>C
ENST00000371335.4:c.-38G>C	ENSP00000360386.4:n.-38G>C
ENST00000434600.6:c.-38G>C	ENSP00000408411.2:n.-38G>C
NM_001122606.1:c.-38G>C , LRG_749t3:c.-38G>C	NP_001116078.1:n.-38G>C
NM_002294.2:c.-38G>C , LRG_749t1:c.-38G>C	NP_002285.1:n.-38G>C
NM_013995.2:c.-38G>C , LRG_749t2:c.-38G>C	NP_054701.1:n.-38G>C
NM_002294.3:c.-38G>C MANE Select	NP_002285.1:n.-38G>C