Canonical Allele Identifier: CA779677952

Gene: SLC14A2

Linked Data

• dbSNP Id: rs1376481774
• gnomAD v3: 18-45220248-C-T
• gnomAD v4: 18-45220248-C-T
• MyVariant Identifiers: chr18:g.42800213C>T (hg19) ; chr18:g.45220248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45220248C>T , CM000680.2:g.45220248C>T	GRCh38
NC_000018.9:g.42800213C>T , CM000680.1:g.42800213C>T	GRCh37
NC_000018.8:g.41054211C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586448.5:c.-125+7057C>T	ENSP00000465953.1:n.-125+7057C>T
NM_001242692.1:c.-125+7057C>T	NP_001229621.1:n.-125+7057C>T
XM_011526216.1:c.-251+7057C>T	XP_011524518.1:n.-251+7057C>T
XM_017026016.2:c.-125+7057C>T	XP_016881505.1:n.-125+7057C>T
XM_024451270.1:c.-125+7057C>T	XP_024307038.1:n.-125+7057C>T
XM_024451271.1:c.-125+7057C>T	XP_024307039.1:n.-125+7057C>T
NM_001242692.2:c.-125+7057C>T	NP_001229621.1:n.-125+7057C>T
NM_001371319.1:c.-125+7057C>T	NP_001358248.1:n.-125+7057C>T