Canonical Allele Identifier: CA335014955

Gene: LAMP2

Linked Data

• dbSNP Id: rs939715480
• gnomAD v4: X-120469184-G-A
• MyVariant Identifiers: chrX:g.119603039G>A (hg19) ; chrX:g.120469184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469184G>A , CM000685.2:g.120469184G>A	GRCh38
NC_000023.10:g.119603039G>A , CM000685.1:g.119603039G>A	GRCh37
NC_000023.9:g.119487067G>A	NCBI36
NG_007995.1:g.5166C>T , LRG_749:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-15C>T	ENSP00000516464.1:n.-15C>T
ENST00000200639.9:c.-15C>T MANE Select	ENSP00000200639.4:n.-15C>T
ENST00000200639.8:c.-15C>T	ENSP00000200639.4:n.-15C>T
ENST00000371335.4:c.-15C>T	ENSP00000360386.4:n.-15C>T
ENST00000434600.6:c.-15C>T	ENSP00000408411.2:n.-15C>T
NM_001122606.1:c.-15C>T , LRG_749t3:c.-15C>T	NP_001116078.1:n.-15C>T
NM_002294.2:c.-15C>T , LRG_749t1:c.-15C>T	NP_002285.1:n.-15C>T
NM_013995.2:c.-15C>T , LRG_749t2:c.-15C>T	NP_054701.1:n.-15C>T
NM_002294.3:c.-15C>T MANE Select	NP_002285.1:n.-15C>T