Canonical Allele Identifier: CA518401889

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 752628
• ClinVar RCV Id: RCV001439962
• dbSNP Id: rs1602535931
• gnomAD v4: X-120448000-A-G
• MyVariant Identifiers: chrX:g.119581855A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448000A>G , CM000685.2:g.120448000A>G	GRCh38
NC_000023.10:g.119581855A>G , CM000685.1:g.119581855A>G	GRCh37
NC_000023.9:g.119465883A>G	NCBI36
NG_007995.1:g.26350T>C , LRG_749:g.26350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.582T>C	ENSP00000516464.1:p.Thr194=
ENST00000200639.9:c.582T>C MANE Select	ENSP00000200639.4:p.Thr194=
ENST00000200639.8:c.582T>C	ENSP00000200639.4:p.Thr194=
ENST00000371335.4:c.582T>C	ENSP00000360386.4:p.Thr194=
ENST00000434600.6:c.582T>C	ENSP00000408411.2:p.Thr194=
ENST00000486593.5:c.125T>C
NM_001122606.1:c.582T>C , LRG_749t3:c.582T>C	NP_001116078.1:p.Thr194=
NM_002294.2:c.582T>C , LRG_749t1:c.582T>C	NP_002285.1:p.Thr194=
NM_013995.2:c.582T>C , LRG_749t2:c.582T>C	NP_054701.1:p.Thr194=
NM_002294.3:c.582T>C MANE Select	NP_002285.1:p.Thr194=