Canonical Allele Identifier: CA335013148

Gene: LAMP2

Linked Data

• dbSNP Id: rs968558800
• gnomAD v3: X-120442478-AC-A
• gnomAD v4: X-120442478-AC-A
• MyVariant Identifiers: chrX:g.119576334del (hg19) ; chrX:g.120442479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442479del , CM000685.2:g.120442479del	GRCh38
NC_000023.10:g.119576334del , CM000685.1:g.119576334del	GRCh37
NC_000023.9:g.119460362del	NCBI36
NG_007995.1:g.31871del , LRG_749:g.31871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.928+120del	ENSP00000516464.1:n.928+120del
ENST00000200639.9:c.928+120del MANE Select	ENSP00000200639.4:n.928+120del
ENST00000200639.8:c.928+120del	ENSP00000200639.4:n.928+120del
ENST00000371335.4:c.928+120del	ENSP00000360386.4:n.928+120del
ENST00000434600.6:c.928+120del	ENSP00000408411.2:n.928+120del
ENST00000486593.5:c.471+120del
NM_001122606.1:c.928+120del , LRG_749t3:c.928+120del	NP_001116078.1:n.928+120del
NM_002294.2:c.928+120del , LRG_749t1:c.928+120del	NP_002285.1:n.928+120del
NM_013995.2:c.928+120del , LRG_749t2:c.928+120del	NP_054701.1:n.928+120del
NM_002294.3:c.928+120del MANE Select	NP_002285.1:n.928+120del