Canonical Allele Identifier: CA2454872855

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448008_120448009delinsCT , CM000685.2:g.120448008_120448009delinsCT	GRCh38
NC_000023.10:g.119581863_119581864delinsCT , CM000685.1:g.119581863_119581864delinsCT	GRCh37
NC_000023.9:g.119465891_119465892delinsCT	NCBI36
NG_007995.1:g.26341_26342delinsAG , LRG_749:g.26341_26342delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.573_574delinsAG	ENSP00000516464.1:p.Lys191=
ENST00000200639.9:c.573_574delinsAG MANE Select	ENSP00000200639.4:p.Lys191=
ENST00000200639.8:c.573_574delinsAG	ENSP00000200639.4:p.Lys191=
ENST00000371335.4:c.573_574delinsAG	ENSP00000360386.4:p.Lys191=
ENST00000434600.6:c.573_574delinsAG	ENSP00000408411.2:p.Lys191=
ENST00000486593.5:c.116_117delinsAG
NM_001122606.1:c.573_574delinsAG , LRG_749t3:c.573_574delinsAG	NP_001116078.1:p.Lys191=
NM_002294.2:c.573_574delinsAG , LRG_749t1:c.573_574delinsAG	NP_002285.1:p.Lys191=
NM_013995.2:c.573_574delinsAG , LRG_749t2:c.573_574delinsAG	NP_054701.1:p.Lys191=
NM_002294.3:c.573_574delinsAG MANE Select	NP_002285.1:p.Lys191=