Canonical Allele Identifier: CA870734090

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 1586554
• ClinVar RCV Id: RCV002104849
• dbSNP Id: rs1253220845
• gnomAD v3: X-120448950-G-C
• gnomAD v4: X-120448950-G-C
• MyVariant Identifiers: chrX:g.119582805G>C (hg19) ; chrX:g.120448950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448950G>C , CM000685.2:g.120448950G>C	GRCh38
NC_000023.10:g.119582805G>C , CM000685.1:g.119582805G>C	GRCh37
NC_000023.9:g.119466833G>C	NCBI36
NG_007995.1:g.25400C>G , LRG_749:g.25400C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.556+20C>G	ENSP00000516464.1:n.556+20C>G
ENST00000200639.9:c.556+20C>G MANE Select	ENSP00000200639.4:n.556+20C>G
ENST00000200639.8:c.556+20C>G	ENSP00000200639.4:n.556+20C>G
ENST00000371335.4:c.556+20C>G	ENSP00000360386.4:n.556+20C>G
ENST00000434600.6:c.556+20C>G	ENSP00000408411.2:n.556+20C>G
ENST00000486593.5:c.99+20C>G
NM_001122606.1:c.556+20C>G , LRG_749t3:c.556+20C>G	NP_001116078.1:n.556+20C>G
NM_002294.2:c.556+20C>G , LRG_749t1:c.556+20C>G	NP_002285.1:n.556+20C>G
NM_013995.2:c.556+20C>G , LRG_749t2:c.556+20C>G	NP_054701.1:n.556+20C>G
NM_002294.3:c.556+20C>G MANE Select	NP_002285.1:n.556+20C>G