Canonical Allele Identifier: CA644131195

Gene: LAMP2

Linked Data

• dbSNP Id: rs1257146108
• gnomAD v2: X-119582781-C-G
• gnomAD v3: X-120448926-C-G
• gnomAD v4: X-120448926-C-G
• MyVariant Identifiers: chrX:g.119582781C>G (hg19) ; chrX:g.120448926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448926C>G , CM000685.2:g.120448926C>G	GRCh38
NC_000023.10:g.119582781C>G , CM000685.1:g.119582781C>G	GRCh37
NC_000023.9:g.119466809C>G	NCBI36
NG_007995.1:g.25424G>C , LRG_749:g.25424G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.556+44G>C	ENSP00000516464.1:n.556+44G>C
ENST00000200639.9:c.556+44G>C MANE Select	ENSP00000200639.4:n.556+44G>C
ENST00000200639.8:c.556+44G>C	ENSP00000200639.4:n.556+44G>C
ENST00000371335.4:c.556+44G>C	ENSP00000360386.4:n.556+44G>C
ENST00000434600.6:c.556+44G>C	ENSP00000408411.2:n.556+44G>C
ENST00000486593.5:c.99+44G>C
NM_001122606.1:c.556+44G>C , LRG_749t3:c.556+44G>C	NP_001116078.1:n.556+44G>C
NM_002294.2:c.556+44G>C , LRG_749t1:c.556+44G>C	NP_002285.1:n.556+44G>C
NM_013995.2:c.556+44G>C , LRG_749t2:c.556+44G>C	NP_054701.1:n.556+44G>C
NM_002294.3:c.556+44G>C MANE Select	NP_002285.1:n.556+44G>C