Canonical Allele Identifier: CA414400294

Gene: LAMP2

Linked Data

• gnomAD v4: X-120442614-A-C
• MyVariant Identifiers: chrX:g.119576469A>C (hg19) ; chrX:g.120442614A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442614A>C , CM000685.2:g.120442614A>C	GRCh38
NC_000023.10:g.119576469A>C , CM000685.1:g.119576469A>C	GRCh37
NC_000023.9:g.119460497A>C	NCBI36
NG_007995.1:g.31736T>G , LRG_749:g.31736T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.913T>G	ENSP00000516464.1:p.Leu305Val
ENST00000200639.9:c.913T>G MANE Select	ENSP00000200639.4:p.Leu305Val
ENST00000200639.8:c.913T>G	ENSP00000200639.4:p.Leu305Val
ENST00000371335.4:c.913T>G	ENSP00000360386.4:p.Leu305Val
ENST00000434600.6:c.913T>G	ENSP00000408411.2:p.Leu305Val
ENST00000486593.5:c.456T>G
NM_001122606.1:c.913T>G , LRG_749t3:c.913T>G	NP_001116078.1:p.Leu305Val
NM_002294.2:c.913T>G , LRG_749t1:c.913T>G	NP_002285.1:p.Leu305Val
NM_013995.2:c.913T>G , LRG_749t2:c.913T>G	NP_054701.1:p.Leu305Val
NM_002294.3:c.913T>G MANE Select	NP_002285.1:p.Leu305Val