Canonical Allele Identifier: CA2322323098

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223866A= , CM000681.2:g.10223866A= GRCh38
NC_000019.9:g.10334542A= , CM000681.1:g.10334542A= GRCh37
NC_000019.8:g.10195542A= NCBI36
NG_028016.3:g.12421T= , LRG_362:g.12421T=
NG_046802.1:g.12942T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1040T= (S1PR2) MANE Select ENSP00000496438.1:p.Leu347=
ENST00000588952.5:c.-401-4997T= (DNMT1) ENSP00000467050.1:n.-401-4997T=
ENST00000590320.2:c.1040T= (S1PR2) ENSP00000466933.1:p.Leu347=
ENST00000592342.5:c.-284+7338T= (DNMT1) ENSP00000465993.1:n.-284+7338T=
NM_004230.3:c.1040T= (S1PR2) NP_004221.3:p.Leu347=
XM_011528425.1:c.894+146T= (S1PR2) XP_011526727.1:n.894+146T=
NM_004230.4:c.1040T= (S1PR2) MANE Select NP_004221.3:p.Leu347=