Canonical Allele Identifier: CA2676067272
Gene: GM2A HGNC NCBI

Linked Data

gnomAD v4: 5-151259894-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259899dup , CM000667.2:g.151259899dup GRCh38
NC_000005.9:g.150639460dup , CM000667.1:g.150639460dup GRCh37
NC_000005.8:g.150619653dup NCBI36
NG_009059.1:g.11848dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.226dup MANE Select ENSP00000349687.3:p.Leu76ProfsTer?
ENST00000357164.3:c.226dup ENSP00000349687.3:p.Leu76ProfsTer?
ENST00000523004.1:c.101dup
ENST00000523466.5:c.271dup ENSP00000429100.1:p.Leu91ProfsTer?
NM_000405.4:c.226dup NP_000396.2:p.Leu76ProfsTer?
NM_001167607.1:c.226dup NP_001161079.1:p.Leu76ProfsTer?
NM_000405.5:c.226dup MANE Select NP_000396.2:p.Leu76ProfsTer?
NM_001167607.2:c.226dup NP_001161079.1:p.Leu76ProfsTer?
NM_001167607.3:c.226dup NP_001161079.1:p.Leu76ProfsTer?
Search 100 bp 5'
Search 100 bp 3'