Canonical Allele Identifier: CA10505291

Gene: LAMP2

Linked Data

• dbSNP Id: rs751422360
• ExAC: X:119582774 T / C
• gnomAD v2: X-119582774-T-C
• gnomAD v4: X-120448919-T-C
• MyVariant Identifiers: chrX:g.119582774T>C (hg19) ; chrX:g.120448919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448919T>C , CM000685.2:g.120448919T>C	GRCh38
NC_000023.10:g.119582774T>C , CM000685.1:g.119582774T>C	GRCh37
NC_000023.9:g.119466802T>C	NCBI36
NG_007995.1:g.25431A>G , LRG_749:g.25431A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.556+51A>G	ENSP00000516464.1:n.556+51A>G
ENST00000200639.9:c.556+51A>G MANE Select	ENSP00000200639.4:n.556+51A>G
ENST00000200639.8:c.556+51A>G	ENSP00000200639.4:n.556+51A>G
ENST00000371335.4:c.556+51A>G	ENSP00000360386.4:n.556+51A>G
ENST00000434600.6:c.556+51A>G	ENSP00000408411.2:n.556+51A>G
ENST00000486593.5:c.99+51A>G
NM_001122606.1:c.556+51A>G , LRG_749t3:c.556+51A>G	NP_001116078.1:n.556+51A>G
NM_002294.2:c.556+51A>G , LRG_749t1:c.556+51A>G	NP_002285.1:n.556+51A>G
NM_013995.2:c.556+51A>G , LRG_749t2:c.556+51A>G	NP_054701.1:n.556+51A>G
NM_002294.3:c.556+51A>G MANE Select	NP_002285.1:n.556+51A>G