Canonical Allele Identifier: CA2838239720
Gene: BORCS8 HGNC NCBI
BORCS8-MEF2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19182495G>A , CM000681.2:g.19182495G>A GRCh38
NC_000019.9:g.19293304G>A , CM000681.1:g.19293304G>A GRCh37
NC_000019.8:g.19154304G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462790.8:c.326+78C>T (BORCS8) MANE Select ENSP00000425864.1:n.326+78C>T
ENST00000354191.8:c.326+78C>T (BORCS8-MEF2B) ENSP00000457957.1:n.326+78C>T
ENST00000444486.7:c.-106+78C>T (BORCS8-MEF2B) ENSP00000390762.2:n.-106+78C>T
ENST00000462790.7:c.326+78C>T (BORCS8) ENSP00000425864.1:n.326+78C>T
ENST00000477565.3:c.*74C>T (BORCS8) ENSP00000424833.1:n.*74C>T
ENST00000488252.6:c.326+78C>T (BORCS8) ENSP00000467744.1:n.326+78C>T
ENST00000494489.6:n.348+78C>T (BORCS8)
ENST00000514819.7:c.22+78C>T (BORCS8-MEF2B) ENSP00000454967.3:n.22+78C>T
ENST00000585679.1:c.22+78C>T (BORCS8) ENSP00000475370.1:n.22+78C>T
ENST00000588208.6:c.176+78C>T (BORCS8) ENSP00000467140.2:n.176+78C>T
ENST00000591398.1:n.389C>T (BORCS8)
ENST00000602438.1:n.356+78C>T (BORCS8-MEF2B)
ENST00000602689.1:c.326+78C>T (BORCS8-MEF2B) ENSP00000473369.1:n.326+78C>T
ENST00000602804.5:c.326+78C>T (BORCS8-MEF2B) ENSP00000473577.1:n.326+78C>T
ENST00000630940.2:c.326+78C>T (BORCS8-MEF2B) ENSP00000486975.1:n.326+78C>T
NM_001145783.1:c.*74C>T (BORCS8) NP_001139255.1:n.*74C>T
NM_001145784.1:c.326+78C>T (BORCS8) NP_001139256.1:n.326+78C>T
NM_005919.3:c.-106+78C>T (BORCS8-MEF2B) NP_005910.1:n.-106+78C>T
NR_027307.1:n.800+78C>T (BORCS8-MEF2B)
NR_027308.1:n.800+78C>T (BORCS8-MEF2B)
NM_001145784.2:c.326+78C>T (BORCS8) MANE Select NP_001139256.1:n.326+78C>T
NM_001145783.2:c.*74C>T (BORCS8) NP_001139255.1:n.*74C>T
NM_005919.4:c.-106+78C>T (BORCS8-MEF2B) NP_005910.1:n.-106+78C>T
NR_027307.2:n.361+78C>T (BORCS8-MEF2B)
NR_027308.2:n.361+78C>T (BORCS8-MEF2B)