Canonical Allele Identifier: CA10505378

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 632873
• ClinVar RCV Id: RCV000780373 ; RCV001536931 ; RCV003892701
• dbSNP Id: rs762305947
• ExAC: X:119603031 G / A
• gnomAD v2: X-119603031-G-A
• gnomAD v3: X-120469176-G-A
• gnomAD v4: X-120469176-G-A
• MyVariant Identifiers: chrX:g.119603031G>A (hg19) ; chrX:g.120469176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469176G>A , CM000685.2:g.120469176G>A	GRCh38
NC_000023.10:g.119603031G>A , CM000685.1:g.119603031G>A	GRCh37
NC_000023.9:g.119487059G>A	NCBI36
NG_007995.1:g.5174C>T , LRG_749:g.5174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-7C>T	ENSP00000516464.1:n.-7C>T
ENST00000200639.9:c.-7C>T MANE Select	ENSP00000200639.4:n.-7C>T
ENST00000200639.8:c.-7C>T	ENSP00000200639.4:n.-7C>T
ENST00000371335.4:c.-7C>T	ENSP00000360386.4:n.-7C>T
ENST00000434600.6:c.-7C>T	ENSP00000408411.2:n.-7C>T
NM_001122606.1:c.-7C>T , LRG_749t3:c.-7C>T	NP_001116078.1:n.-7C>T
NM_002294.2:c.-7C>T , LRG_749t1:c.-7C>T	NP_002285.1:n.-7C>T
NM_013995.2:c.-7C>T , LRG_749t2:c.-7C>T	NP_054701.1:n.-7C>T
NM_002294.3:c.-7C>T MANE Select	NP_002285.1:n.-7C>T