Canonical Allele Identifier: CA2694598282
Gene: LAMP2 HGNC NCBI

Linked Data

gnomAD v4: X-120448889-GATA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120448892_120448894del , CM000685.2:g.120448892_120448894del GRCh38
NC_000023.10:g.119582747_119582749del , CM000685.1:g.119582747_119582749del GRCh37
NC_000023.9:g.119466775_119466777del NCBI36
NG_007995.1:g.25458_25460del , LRG_749:g.25458_25460del

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.556+78_556+80del ENSP00000516464.1:n.556+78_556+80del
ENST00000200639.9:c.556+78_556+80del MANE Select ENSP00000200639.4:n.556+78_556+80del
ENST00000200639.8:c.556+78_556+80del ENSP00000200639.4:n.556+78_556+80del
ENST00000371335.4:c.556+78_556+80del ENSP00000360386.4:n.556+78_556+80del
ENST00000434600.6:c.556+78_556+80del ENSP00000408411.2:n.556+78_556+80del
ENST00000486593.5:c.99+78_99+80del
NM_001122606.1:c.556+78_556+80del , LRG_749t3:c.556+78_556+80del NP_001116078.1:n.556+78_556+80del
NM_002294.2:c.556+78_556+80del , LRG_749t1:c.556+78_556+80del NP_002285.1:n.556+78_556+80del
NM_013995.2:c.556+78_556+80del , LRG_749t2:c.556+78_556+80del NP_054701.1:n.556+78_556+80del
NM_002294.3:c.556+78_556+80del MANE Select NP_002285.1:n.556+78_556+80del
Search 100 bp 5'
Search 100 bp 3'