Canonical Allele Identifier: CA10505282

Gene: LAMP2

Linked Data

• dbSNP Id: rs768401197
• ExAC: X:119581877 A / AT
• MyVariant Identifiers: chrX:g.119581877_119581878insT (hg19) ; chrX:g.120448022_120448023insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448022_120448023insT , CM000685.2:g.120448022_120448023insT	GRCh38
NC_000023.10:g.119581877_119581878insT , CM000685.1:g.119581877_119581878insT	GRCh37
NC_000023.9:g.119465905_119465906insT	NCBI36
NG_007995.1:g.26327_26328insA , LRG_749:g.26327_26328insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.559_560insA	ENSP00000516464.1:p.Phe187TyrfsTer4
ENST00000200639.9:c.559_560insA MANE Select	ENSP00000200639.4:p.Phe187TyrfsTer4
ENST00000200639.8:c.559_560insA	ENSP00000200639.4:p.Phe187TyrfsTer4
ENST00000371335.4:c.559_560insA	ENSP00000360386.4:p.Phe187TyrfsTer4
ENST00000434600.6:c.559_560insA	ENSP00000408411.2:p.Phe187TyrfsTer4
ENST00000486593.5:c.102_103insA
NM_001122606.1:c.559_560insA , LRG_749t3:c.559_560insA	NP_001116078.1:p.Phe187TyrfsTer4
NM_002294.2:c.559_560insA , LRG_749t1:c.559_560insA	NP_002285.1:p.Phe187TyrfsTer4
NM_013995.2:c.559_560insA , LRG_749t2:c.559_560insA	NP_054701.1:p.Phe187TyrfsTer4
NM_002294.3:c.559_560insA MANE Select	NP_002285.1:p.Phe187TyrfsTer4