Canonical Allele Identifier: CA335014097
Community Standard Title: NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
Gene: LAMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120456740T>C , CM000685.2:g.120456740T>C GRCh38
NC_000023.10:g.119590595T>C , CM000685.1:g.119590595T>C GRCh37
NC_000023.9:g.119474623T>C NCBI36
NG_007995.1:g.17610A>G , LRG_749:g.17610A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002294.3:c.94A>G MANE Select NP_002285.1:p.Asn32Asp
ENST00000200639.9:c.94A>G MANE Select ENSP00000200639.4:p.Asn32Asp
NM_001122606.1:c.94A>G , LRG_749t3:c.94A>G NP_001116078.1:p.Asn32Asp
NM_002294.2:c.94A>G , LRG_749t1:c.94A>G NP_002285.1:p.Asn32Asp
NM_013995.2:c.94A>G , LRG_749t2:c.94A>G NP_054701.1:p.Asn32Asp
ENST00000200639.8:c.94A>G ENSP00000200639.4:p.Asn32Asp
ENST00000371335.4:c.94A>G ENSP00000360386.4:p.Asn32Asp
ENST00000434600.6:c.94A>G ENSP00000408411.2:p.Asn32Asp
ENST00000706600.1:c.94A>G ENSP00000516464.1:p.Asn32Asp