Canonical Allele Identifier: CA779717913
Community Standard Title: NC_000018.10:g.45607165A>T
Gene: SLC14A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45607165A>T , CM000680.2:g.45607165A>T GRCh38
NC_000018.9:g.43187130A>T , CM000680.1:g.43187130A>T GRCh37
NC_000018.8:g.41441128A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001242692.1:c.-34-17466A>T NP_001229621.1:n.-34-17466A>T
NM_001242692.2:c.-34-17466A>T NP_001229621.1:n.-34-17466A>T
NM_001371319.1:c.-34-17466A>T NP_001358248.1:n.-34-17466A>T
ENST00000586448.5:c.-34-17466A>T ENSP00000465953.1:n.-34-17466A>T
ENST00000589658.5:c.-34-17466A>T ENSP00000465349.2:n.-34-17466A>T
XM_011526216.1:c.-35+17284A>T XP_011524518.1:n.-35+17284A>T
XM_011526217.1:c.-34-17466A>T XP_011524519.1:n.-34-17466A>T
XM_017026016.2:c.-34-17466A>T XP_016881505.1:n.-34-17466A>T
XM_024451270.1:c.-34-17466A>T XP_024307038.1:n.-34-17466A>T
XM_024451271.1:c.-34-17466A>T XP_024307039.1:n.-34-17466A>T
XR_001753562.1:n.5507T>A