Canonical Allele Identifier: CA300072646

Gene: SLC14A2

Linked Data

• dbSNP Id: rs780329869
• gnomAD v3: 18-45220186-C-G
• gnomAD v4: 18-45220186-C-G
• MyVariant Identifiers: chr18:g.42800151C>G (hg19) ; chr18:g.45220186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45220186C>G , CM000680.2:g.45220186C>G	GRCh38
NC_000018.9:g.42800151C>G , CM000680.1:g.42800151C>G	GRCh37
NC_000018.8:g.41054149C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586448.5:c.-125+6995C>G	ENSP00000465953.1:n.-125+6995C>G
NM_001242692.1:c.-125+6995C>G	NP_001229621.1:n.-125+6995C>G
XM_011526216.1:c.-251+6995C>G	XP_011524518.1:n.-251+6995C>G
XM_017026016.2:c.-125+6995C>G	XP_016881505.1:n.-125+6995C>G
XM_024451270.1:c.-125+6995C>G	XP_024307038.1:n.-125+6995C>G
XM_024451271.1:c.-125+6995C>G	XP_024307039.1:n.-125+6995C>G
NM_001242692.2:c.-125+6995C>G	NP_001229621.1:n.-125+6995C>G
NM_001371319.1:c.-125+6995C>G	NP_001358248.1:n.-125+6995C>G