Canonical Allele Identifier: CA1136814519

Gene: LAMP2

Linked Data

• dbSNP Id: rs2058577506
• gnomAD v3: X-120442432-A-G
• gnomAD v4: X-120442432-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442432A>G , CM000685.2:g.120442432A>G	GRCh38
NC_000023.10:g.119576287A>G , CM000685.1:g.119576287A>G	GRCh37
NC_000023.9:g.119460315A>G	NCBI36
NG_007995.1:g.31918T>C , LRG_749:g.31918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.928+167T>C	ENSP00000516464.1:n.928+167T>C
ENST00000200639.9:c.928+167T>C MANE Select	ENSP00000200639.4:n.928+167T>C
ENST00000200639.8:c.928+167T>C	ENSP00000200639.4:n.928+167T>C
ENST00000371335.4:c.928+167T>C	ENSP00000360386.4:n.928+167T>C
ENST00000434600.6:c.928+167T>C	ENSP00000408411.2:n.928+167T>C
ENST00000486593.5:c.471+167T>C
NM_001122606.1:c.928+167T>C , LRG_749t3:c.928+167T>C	NP_001116078.1:n.928+167T>C
NM_002294.2:c.928+167T>C , LRG_749t1:c.928+167T>C	NP_002285.1:n.928+167T>C
NM_013995.2:c.928+167T>C , LRG_749t2:c.928+167T>C	NP_054701.1:n.928+167T>C
NM_002294.3:c.928+167T>C MANE Select	NP_002285.1:n.928+167T>C