Canonical Allele Identifier: CA2695202754
Gene: GM2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151266799del , CM000667.2:g.151266799del GRCh38
NC_000005.9:g.150646360del , CM000667.1:g.150646360del GRCh37
NC_000005.8:g.150626553del NCBI36
NG_009059.1:g.18748del

Transcript Alleles

HGVS Amino-acid change
ENST00000357164.4:c.312del MANE Select ENSP00000349687.3:p.Ser105AlafsTer14
ENST00000357164.3:c.312del ENSP00000349687.3:p.Ser105AlafsTer14
ENST00000523004.1:c.187del
ENST00000523466.5:c.357del ENSP00000429100.1:p.Ser120AlafsTer14
NM_000405.4:c.312del NP_000396.2:p.Ser105AlafsTer14
NM_001167607.1:c.312del NP_001161079.1:p.Ser105AlafsTer14
NM_000405.5:c.312del MANE Select NP_000396.2:p.Ser105AlafsTer14
NM_001167607.2:c.312del NP_001161079.1:p.Ser105AlafsTer14
NM_001167607.3:c.312del NP_001161079.1:p.Ser105AlafsTer14
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