Canonical Allele Identifier: CA396530554

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69187451C>G , CM000678.2:g.69187451C>G GRCh38
NC_000016.9:g.69221354C>G , CM000678.1:g.69221354C>G GRCh37
NC_000016.8:g.67778855C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006750.4:c.285C>G (SNTB2) MANE Select NP_006741.1:p.Ser95Arg
ENST00000336278.9:c.285C>G (SNTB2) MANE Select ENSP00000338191.4:p.Ser95Arg
NM_006750.3:c.285C>G (SNTB2) NP_006741.1:p.Ser95Arg
NR_172088.1:n.288C>G (SNTB2)
NR_172089.1:n.288C>G (SNTB2)
NR_172090.1:n.288C>G (SNTB2)
ENST00000336278.8:c.285C>G (SNTB2) ENSP00000338191.4:p.Ser95Arg
ENST00000467311.5:c.285C>G (SNTB2) ENSP00000436443.1:p.Ser95Arg
ENST00000567287.2:n.82+20266C>G (UTP4)