Canonical Allele Identifier: CA2454872837

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120447969_120447970del , CM000685.2:g.120447969_120447970del	GRCh38
NC_000023.10:g.119581824_119581825del , CM000685.1:g.119581824_119581825del	GRCh37
NC_000023.9:g.119465852_119465853del	NCBI36
NG_007995.1:g.26382_26383del , LRG_749:g.26382_26383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.614_615del	ENSP00000516464.1:p.Val205AlafsTer21
ENST00000200639.9:c.614_615del MANE Select	ENSP00000200639.4:p.Val205AlafsTer21
ENST00000200639.8:c.614_615del	ENSP00000200639.4:p.Val205AlafsTer21
ENST00000371335.4:c.614_615del	ENSP00000360386.4:p.Val205AlafsTer21
ENST00000434600.6:c.614_615del	ENSP00000408411.2:p.Val205AlafsTer21
ENST00000486593.5:c.157_158del
NM_001122606.1:c.614_615del , LRG_749t3:c.614_615del	NP_001116078.1:p.Val205AlafsTer21
NM_002294.2:c.614_615del , LRG_749t1:c.614_615del	NP_002285.1:p.Val205AlafsTer21
NM_013995.2:c.614_615del , LRG_749t2:c.614_615del	NP_054701.1:p.Val205AlafsTer21
NM_002294.3:c.614_615del MANE Select	NP_002285.1:p.Val205AlafsTer21