Canonical Allele Identifier: CA1591312134

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259905_151259908delinsTCTC , CM000667.2:g.151259905_151259908delinsTCTC	GRCh38
NC_000005.9:g.150639466_150639469delinsTCTC , CM000667.1:g.150639466_150639469delinsTCTC	GRCh37
NC_000005.8:g.150619659_150619662delinsTCTC	NCBI36
NG_009059.1:g.11854_11857delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.232_235delinsTCTC MANE Select	ENSP00000349687.3:p.Ser78=
ENST00000357164.3:c.232_235delinsTCTC	ENSP00000349687.3:p.Ser78=
ENST00000523004.1:c.107_110delinsTCTC
ENST00000523466.5:c.277_280delinsTCTC	ENSP00000429100.1:p.Ser93=
NM_000405.4:c.232_235delinsTCTC	NP_000396.2:p.Ser78=
NM_001167607.1:c.232_235delinsTCTC	NP_001161079.1:p.Ser78=
NM_000405.5:c.232_235delinsTCTC MANE Select	NP_000396.2:p.Ser78=
NM_001167607.2:c.232_235delinsTCTC	NP_001161079.1:p.Ser78=
NM_001167607.3:c.232_235delinsTCTC	NP_001161079.1:p.Ser78=