Canonical Allele Identifier: CA2300474353
Gene: SLC14A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45651657G>C , CM000680.2:g.45651657G>C GRCh38
NC_000018.9:g.43231622G>C , CM000680.1:g.43231622G>C GRCh37
NC_000018.8:g.41485620G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255226.11:c.1351+7497G>C MANE Select ENSP00000255226.5:n.1351+7497G>C
ENST00000255226.10:c.1351+7497G>C ENSP00000255226.5:n.1351+7497G>C
ENST00000586448.5:c.1351+7497G>C ENSP00000465953.1:n.1351+7497G>C
ENST00000589658.5:c.1351+7497G>C ENSP00000465349.2:n.1351+7497G>C
NM_001242692.1:c.1351+7497G>C NP_001229621.1:n.1351+7497G>C
NM_007163.3:c.1351+7497G>C NP_009094.3:n.1351+7497G>C
XM_011526216.1:c.1351+7497G>C XP_011524518.1:n.1351+7497G>C
XM_011526217.1:c.1216+7497G>C XP_011524519.1:n.1216+7497G>C
XM_017026016.2:c.1216+7497G>C XP_016881505.1:n.1216+7497G>C
XM_024451270.1:c.1351+7497G>C XP_024307038.1:n.1351+7497G>C
XM_024451271.1:c.1351+7497G>C XP_024307039.1:n.1351+7497G>C
XR_935423.2:n.873-14500C>G
NM_001242692.2:c.1351+7497G>C NP_001229621.1:n.1351+7497G>C
NM_001371319.1:c.1351+7497G>C NP_001358248.1:n.1351+7497G>C
NM_007163.4:c.1351+7497G>C MANE Select NP_009094.3:n.1351+7497G>C