Canonical Allele Identifier: CA414402098

Gene: LAMP2

Linked Data

• gnomAD v4: X-120449043-C-A
• COSMIC: COSM1213079 ; COSM1213080 ; COSM1213081
• MyVariant Identifiers: chrX:g.119582898C>A (hg19) ; chrX:g.120449043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449043C>A , CM000685.2:g.120449043C>A	GRCh38
NC_000023.10:g.119582898C>A , CM000685.1:g.119582898C>A	GRCh37
NC_000023.9:g.119466926C>A	NCBI36
NG_007995.1:g.25307G>T , LRG_749:g.25307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.483G>T	ENSP00000516464.1:p.Lys161Asn
ENST00000200639.9:c.483G>T MANE Select	ENSP00000200639.4:p.Lys161Asn
ENST00000200639.8:c.483G>T	ENSP00000200639.4:p.Lys161Asn
ENST00000371335.4:c.483G>T	ENSP00000360386.4:p.Lys161Asn
ENST00000434600.6:c.483G>T	ENSP00000408411.2:p.Lys161Asn
ENST00000486593.5:c.26G>T
NM_001122606.1:c.483G>T , LRG_749t3:c.483G>T	NP_001116078.1:p.Lys161Asn
NM_002294.2:c.483G>T , LRG_749t1:c.483G>T	NP_002285.1:p.Lys161Asn
NM_013995.2:c.483G>T , LRG_749t2:c.483G>T	NP_054701.1:p.Lys161Asn
NM_002294.3:c.483G>T MANE Select	NP_002285.1:p.Lys161Asn