Canonical Allele Identifier: CA10505290

Gene: LAMP2

Linked Data

• dbSNP Id: rs771840744
• ExAC: X:119581929 AATTC / A
• gnomAD v2: X-119581929-AATTC-A
• MyVariant Identifiers: chrX:g.119581930_119581933del (hg19) ; chrX:g.120448075_120448078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448077_120448080del , CM000685.2:g.120448077_120448080del	GRCh38
NC_000023.10:g.119581932_119581935del , CM000685.1:g.119581932_119581935del	GRCh37
NC_000023.9:g.119465960_119465963del	NCBI36
NG_007995.1:g.26272_26275del , LRG_749:g.26272_26275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.557-53_557-50del	ENSP00000516464.1:n.557-53_557-50del
ENST00000200639.9:c.557-53_557-50del MANE Select	ENSP00000200639.4:n.557-53_557-50del
ENST00000200639.8:c.557-53_557-50del	ENSP00000200639.4:n.557-53_557-50del
ENST00000371335.4:c.557-53_557-50del	ENSP00000360386.4:n.557-53_557-50del
ENST00000434600.6:c.557-53_557-50del	ENSP00000408411.2:n.557-53_557-50del
ENST00000486593.5:c.100-53_100-50del
NM_001122606.1:c.557-53_557-50del , LRG_749t3:c.557-53_557-50del	NP_001116078.1:n.557-53_557-50del
NM_002294.2:c.557-53_557-50del , LRG_749t1:c.557-53_557-50del	NP_002285.1:n.557-53_557-50del
NM_013995.2:c.557-53_557-50del , LRG_749t2:c.557-53_557-50del	NP_054701.1:n.557-53_557-50del
NM_002294.3:c.557-53_557-50del MANE Select	NP_002285.1:n.557-53_557-50del