Canonical Allele Identifier: CA15928675
Gene: SLC14A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45234191C>A , CM000680.2:g.45234191C>A GRCh38
NC_000018.9:g.42814156C>A , CM000680.1:g.42814156C>A GRCh37
NC_000018.8:g.41068154C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586448.5:c.-125+21000C>A ENSP00000465953.1:n.-125+21000C>A
NM_001242692.1:c.-125+21000C>A NP_001229621.1:n.-125+21000C>A
XM_011526216.1:c.-251+21000C>A XP_011524518.1:n.-251+21000C>A
XM_017026016.2:c.-125+21000C>A XP_016881505.1:n.-125+21000C>A
XM_024451270.1:c.-125+21000C>A XP_024307038.1:n.-125+21000C>A
XM_024451271.1:c.-125+21000C>A XP_024307039.1:n.-125+21000C>A
NM_001242692.2:c.-125+21000C>A NP_001229621.1:n.-125+21000C>A
NM_001371319.1:c.-125+21000C>A NP_001358248.1:n.-125+21000C>A