Canonical Allele Identifier: CA2694598299

Gene: LAMP2

Linked Data

• gnomAD v4: X-120448946-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448946T>A , CM000685.2:g.120448946T>A	GRCh38
NC_000023.10:g.119582801T>A , CM000685.1:g.119582801T>A	GRCh37
NC_000023.9:g.119466829T>A	NCBI36
NG_007995.1:g.25404A>T , LRG_749:g.25404A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.556+24A>T	ENSP00000516464.1:n.556+24A>T
ENST00000200639.9:c.556+24A>T MANE Select	ENSP00000200639.4:n.556+24A>T
ENST00000200639.8:c.556+24A>T	ENSP00000200639.4:n.556+24A>T
ENST00000371335.4:c.556+24A>T	ENSP00000360386.4:n.556+24A>T
ENST00000434600.6:c.556+24A>T	ENSP00000408411.2:n.556+24A>T
ENST00000486593.5:c.99+24A>T
NM_001122606.1:c.556+24A>T , LRG_749t3:c.556+24A>T	NP_001116078.1:n.556+24A>T
NM_002294.2:c.556+24A>T , LRG_749t1:c.556+24A>T	NP_002285.1:n.556+24A>T
NM_013995.2:c.556+24A>T , LRG_749t2:c.556+24A>T	NP_054701.1:n.556+24A>T
NM_002294.3:c.556+24A>T MANE Select	NP_002285.1:n.556+24A>T