Canonical Allele Identifier: CA644130771

Gene: LAMP2

Linked Data

• dbSNP Id: rs1196979427
• gnomAD v2: X-119576539-GTTAA-G
• gnomAD v3: X-120442684-GTTAA-G
• gnomAD v4: X-120442684-GTTAA-G
• MyVariant Identifiers: chrX:g.119576540_119576543del (hg19) ; chrX:g.120442685_120442688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442689_120442692del , CM000685.2:g.120442689_120442692del	GRCh38
NC_000023.10:g.119576544_119576547del , CM000685.1:g.119576544_119576547del	GRCh37
NC_000023.9:g.119460572_119460575del	NCBI36
NG_007995.1:g.31662_31665del , LRG_749:g.31662_31665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.865-26_865-23del	ENSP00000516464.1:n.865-26_865-23del
ENST00000200639.9:c.865-26_865-23del MANE Select	ENSP00000200639.4:n.865-26_865-23del
ENST00000200639.8:c.865-26_865-23del	ENSP00000200639.4:n.865-26_865-23del
ENST00000371335.4:c.865-26_865-23del	ENSP00000360386.4:n.865-26_865-23del
ENST00000434600.6:c.865-26_865-23del	ENSP00000408411.2:n.865-26_865-23del
ENST00000486593.5:c.408-26_408-23del
NM_001122606.1:c.865-26_865-23del , LRG_749t3:c.865-26_865-23del	NP_001116078.1:n.865-26_865-23del
NM_002294.2:c.865-26_865-23del , LRG_749t1:c.865-26_865-23del	NP_002285.1:n.865-26_865-23del
NM_013995.2:c.865-26_865-23del , LRG_749t2:c.865-26_865-23del	NP_054701.1:n.865-26_865-23del
NM_002294.3:c.865-26_865-23del MANE Select	NP_002285.1:n.865-26_865-23del