Canonical Allele Identifier: CA2499226343

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 1270115
• ClinVar RCV Id: RCV001684273
• dbSNP Id: rs2147295007

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469212C>A , CM000685.2:g.120469212C>A	GRCh38
NC_000023.10:g.119603067C>A , CM000685.1:g.119603067C>A	GRCh37
NC_000023.9:g.119487095C>A	NCBI36
NG_007995.1:g.5138G>T , LRG_749:g.5138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-43G>T	ENSP00000516464.1:n.-43G>T
ENST00000200639.9:c.-43G>T MANE Select	ENSP00000200639.4:n.-43G>T
ENST00000200639.8:c.-43G>T	ENSP00000200639.4:n.-43G>T
ENST00000371335.4:c.-43G>T	ENSP00000360386.4:n.-43G>T
ENST00000434600.6:c.-43G>T	ENSP00000408411.2:n.-43G>T
NM_001122606.1:c.-43G>T , LRG_749t3:c.-43G>T	NP_001116078.1:n.-43G>T
NM_002294.2:c.-43G>T , LRG_749t1:c.-43G>T	NP_002285.1:n.-43G>T
NM_013995.2:c.-43G>T , LRG_749t2:c.-43G>T	NP_054701.1:n.-43G>T
NM_002294.3:c.-43G>T MANE Select	NP_002285.1:n.-43G>T