Canonical Allele Identifier: CA120868
Gene: LAMP2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.120442599C>T
GRCh37 chrX:g.119576454C>T
Revel Score:
ENST00000434600 0.192
ENST00000538785 0.192
ENST00000200639 (MANE Select) 0.192
ENST00000371335 0.192
ENST00000540603 0.192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120442599C>T , CM000685.2:g.120442599C>T GRCh38
NC_000023.10:g.119576454C>T , CM000685.1:g.119576454C>T GRCh37
NC_000023.9:g.119460482C>T NCBI36
NG_007995.1:g.31751G>A , LRG_749:g.31751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.928G>A ENSP00000516464.1:p.Val310Ile
ENST00000200639.9:c.928G>A MANE Select ENSP00000200639.4:p.Val310Ile
ENST00000200639.8:c.928G>A ENSP00000200639.4:p.Val310Ile
ENST00000371335.4:c.928G>A ENSP00000360386.4:p.Val310Ile
ENST00000434600.6:c.928G>A ENSP00000408411.2:p.Val310Ile
ENST00000486593.5:c.471G>A
NM_001122606.1:c.928G>A , LRG_749t3:c.928G>A NP_001116078.1:p.Val310Ile
NM_002294.2:c.928G>A , LRG_749t1:c.928G>A NP_002285.1:p.Val310Ile
NM_013995.2:c.928G>A , LRG_749t2:c.928G>A NP_054701.1:p.Val310Ile
NM_002294.3:c.928G>A MANE Select NP_002285.1:p.Val310Ile
Search 100 bp 5'
Search 100 bp 3'