Canonical Allele Identifier: CA9189168

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224876G>T , CM000681.2:g.10224876G>T GRCh38
NC_000019.9:g.10335552G>T , CM000681.1:g.10335552G>T GRCh37
NC_000019.8:g.10196552G>T NCBI36
NG_028016.3:g.11411C>A , LRG_362:g.11411C>A
NG_046802.1:g.11932C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.30C>A (S1PR2) MANE Select ENSP00000496438.1:p.Asn10Lys
ENST00000588952.5:c.-401-6007C>A (DNMT1) ENSP00000467050.1:n.-401-6007C>A
ENST00000590320.2:c.30C>A (S1PR2) ENSP00000466933.1:p.Asn10Lys
ENST00000592342.5:c.-284+6328C>A (DNMT1) ENSP00000465993.1:n.-284+6328C>A
NM_004230.3:c.30C>A (S1PR2) NP_004221.3:p.Asn10Lys
XM_011528425.1:c.30C>A (S1PR2) XP_011526727.1:p.Asn10Lys
NM_004230.4:c.30C>A (S1PR2) MANE Select NP_004221.3:p.Asn10Lys