Canonical Allele Identifier: CA10505283

Gene: LAMP2

Linked Data

• dbSNP Id: rs774009041
• ExAC: X:119581878 A / AAGGTATAGGTGT
• MyVariant Identifiers: chrX:g.119581878_119581879insAGGTATAGGTGT (hg19) ; chrX:g.120448023_120448024insAGGTATAGGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448023_120448024insAGGTATAGGTGT , CM000685.2:g.120448023_120448024insAGGTATAGGTGT	GRCh38
NC_000023.10:g.119581878_119581879insAGGTATAGGTGT , CM000685.1:g.119581878_119581879insAGGTATAGGTGT	GRCh37
NC_000023.9:g.119465906_119465907insAGGTATAGGTGT	NCBI36
NG_007995.1:g.26326_26327insACACCTATACCT , LRG_749:g.26326_26327insACACCTATACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.558_559insACACCTATACCT	ENSP00000516464.1:p.Glu186_Phe187insThrProIlePro
ENST00000200639.9:c.558_559insACACCTATACCT MANE Select	ENSP00000200639.4:p.Glu186_Phe187insThrProIlePro
ENST00000200639.8:c.558_559insACACCTATACCT	ENSP00000200639.4:p.Glu186_Phe187insThrProIlePro
ENST00000371335.4:c.558_559insACACCTATACCT	ENSP00000360386.4:p.Glu186_Phe187insThrProIlePro
ENST00000434600.6:c.558_559insACACCTATACCT	ENSP00000408411.2:p.Glu186_Phe187insThrProIlePro
ENST00000486593.5:c.101_102insACACCTATACCT
NM_001122606.1:c.558_559insACACCTATACCT , LRG_749t3:c.558_559insACACCTATACCT	NP_001116078.1:p.Glu186_Phe187insThrProIlePro
NM_002294.2:c.558_559insACACCTATACCT , LRG_749t1:c.558_559insACACCTATACCT	NP_002285.1:p.Glu186_Phe187insThrProIlePro
NM_013995.2:c.558_559insACACCTATACCT , LRG_749t2:c.558_559insACACCTATACCT	NP_054701.1:p.Glu186_Phe187insThrProIlePro
NM_002294.3:c.558_559insACACCTATACCT MANE Select	NP_002285.1:p.Glu186_Phe187insThrProIlePro