Canonical Allele Identifier: CA414402037

Gene: LAMP2

Linked Data

• MyVariant Identifiers: chrX:g.119582883T>G (hg19) ; chrX:g.120449028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449028T>G , CM000685.2:g.120449028T>G	GRCh38
NC_000023.10:g.119582883T>G , CM000685.1:g.119582883T>G	GRCh37
NC_000023.9:g.119466911T>G	NCBI36
NG_007995.1:g.25322A>C , LRG_749:g.25322A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.498A>C	ENSP00000516464.1:p.Gln166His
ENST00000200639.9:c.498A>C MANE Select	ENSP00000200639.4:p.Gln166His
ENST00000200639.8:c.498A>C	ENSP00000200639.4:p.Gln166His
ENST00000371335.4:c.498A>C	ENSP00000360386.4:p.Gln166His
ENST00000434600.6:c.498A>C	ENSP00000408411.2:p.Gln166His
ENST00000486593.5:c.41A>C
NM_001122606.1:c.498A>C , LRG_749t3:c.498A>C	NP_001116078.1:p.Gln166His
NM_002294.2:c.498A>C , LRG_749t1:c.498A>C	NP_002285.1:p.Gln166His
NM_013995.2:c.498A>C , LRG_749t2:c.498A>C	NP_054701.1:p.Gln166His
NM_002294.3:c.498A>C MANE Select	NP_002285.1:p.Gln166His