Canonical Allele Identifier: CA406725165
Gene: BCAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48799980C>T , CM000681.2:g.48799980C>T GRCh38
NC_000019.9:g.49303237C>T , CM000681.1:g.49303237C>T GRCh37
NC_000019.8:g.53995049C>T NCBI36
NG_013003.1:g.16084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316273.11:c.531+1G>A MANE Select ENSP00000322991.5:n.531+1G>A
ENST00000316273.10:c.531+1G>A ENSP00000322991.5:n.531+1G>A
ENST00000402551.5:c.411+1G>A ENSP00000385161.1:n.411+1G>A
ENST00000545387.6:c.255+1G>A ENSP00000440973.1:n.255+1G>A
ENST00000593515.5:c.507+1G>A ENSP00000469139.1:n.507+1G>A
ENST00000595376.1:n.1225+1G>A
ENST00000597011.5:c.411+1G>A ENSP00000469651.1:n.411+1G>A
ENST00000598162.5:c.531+1G>A ENSP00000470216.1:n.531+1G>A
ENST00000599246.5:c.255+1G>A ENSP00000470680.1:n.255+1G>A
NM_001164773.1:c.255+1G>A NP_001158245.1:n.255+1G>A
NM_001190.3:c.531+1G>A NP_001181.2:n.531+1G>A
NM_001284325.1:c.411+1G>A NP_001271254.1:n.411+1G>A
XM_024451630.1:c.411+1G>A XP_024307398.1:n.411+1G>A
NM_001190.4:c.531+1G>A MANE Select NP_001181.2:n.531+1G>A
NM_001164773.2:c.255+1G>A NP_001158245.1:n.255+1G>A
NM_001284325.2:c.411+1G>A NP_001271254.1:n.411+1G>A