Canonical Allele Identifier: CA629756028

Gene: SLC14A2

Linked Data

• dbSNP Id: rs780329869
• gnomAD v2: 18-42800151-C-A
• gnomAD v3: 18-45220186-C-A
• gnomAD v4: 18-45220186-C-A
• MyVariant Identifiers: chr18:g.42800151C>A (hg19) ; chr18:g.45220186C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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