Canonical Allele Identifier: CA300072671

Gene: SLC14A2

Linked Data

• dbSNP Id: rs141478391
• gnomAD v3: 18-45220233-G-A
• gnomAD v4: 18-45220233-G-A
• MyVariant Identifiers: chr18:g.42800198G>A (hg19) ; chr18:g.45220233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45220233G>A , CM000680.2:g.45220233G>A	GRCh38
NC_000018.9:g.42800198G>A , CM000680.1:g.42800198G>A	GRCh37
NC_000018.8:g.41054196G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586448.5:c.-125+7042G>A	ENSP00000465953.1:n.-125+7042G>A
NM_001242692.1:c.-125+7042G>A	NP_001229621.1:n.-125+7042G>A
XM_011526216.1:c.-251+7042G>A	XP_011524518.1:n.-251+7042G>A
XM_017026016.2:c.-125+7042G>A	XP_016881505.1:n.-125+7042G>A
XM_024451270.1:c.-125+7042G>A	XP_024307038.1:n.-125+7042G>A
XM_024451271.1:c.-125+7042G>A	XP_024307039.1:n.-125+7042G>A
NM_001242692.2:c.-125+7042G>A	NP_001229621.1:n.-125+7042G>A
NM_001371319.1:c.-125+7042G>A	NP_001358248.1:n.-125+7042G>A