Canonical Allele Identifier: CA518400532

Gene: LAMP2

Linked Data

• gnomAD v4: X-120442603-G-T
• MyVariant Identifiers: chrX:g.119576458G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442603G>T , CM000685.2:g.120442603G>T	GRCh38
NC_000023.10:g.119576458G>T , CM000685.1:g.119576458G>T	GRCh37
NC_000023.9:g.119460486G>T	NCBI36
NG_007995.1:g.31747C>A , LRG_749:g.31747C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.924C>A	ENSP00000516464.1:p.Gly308=
ENST00000200639.9:c.924C>A MANE Select	ENSP00000200639.4:p.Gly308=
ENST00000200639.8:c.924C>A	ENSP00000200639.4:p.Gly308=
ENST00000371335.4:c.924C>A	ENSP00000360386.4:p.Gly308=
ENST00000434600.6:c.924C>A	ENSP00000408411.2:p.Gly308=
ENST00000486593.5:c.467C>A
NM_001122606.1:c.924C>A , LRG_749t3:c.924C>A	NP_001116078.1:p.Gly308=
NM_002294.2:c.924C>A , LRG_749t1:c.924C>A	NP_002285.1:p.Gly308=
NM_013995.2:c.924C>A , LRG_749t2:c.924C>A	NP_054701.1:p.Gly308=
NM_002294.3:c.924C>A MANE Select	NP_002285.1:p.Gly308=