Canonical Allele Identifier: CA2694598833

Gene: LAMP2

Linked Data

• gnomAD v4: X-120469209-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469209G>T , CM000685.2:g.120469209G>T	GRCh38
NC_000023.10:g.119603064G>T , CM000685.1:g.119603064G>T	GRCh37
NC_000023.9:g.119487092G>T	NCBI36
NG_007995.1:g.5141C>A , LRG_749:g.5141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-40C>A	ENSP00000516464.1:n.-40C>A
ENST00000200639.9:c.-40C>A MANE Select	ENSP00000200639.4:n.-40C>A
ENST00000200639.8:c.-40C>A	ENSP00000200639.4:n.-40C>A
ENST00000371335.4:c.-40C>A	ENSP00000360386.4:n.-40C>A
ENST00000434600.6:c.-40C>A	ENSP00000408411.2:n.-40C>A
NM_001122606.1:c.-40C>A , LRG_749t3:c.-40C>A	NP_001116078.1:n.-40C>A
NM_002294.2:c.-40C>A , LRG_749t1:c.-40C>A	NP_002285.1:n.-40C>A
NM_013995.2:c.-40C>A , LRG_749t2:c.-40C>A	NP_054701.1:n.-40C>A
NM_002294.3:c.-40C>A MANE Select	NP_002285.1:n.-40C>A