Canonical Allele Identifier: CA989851801

Gene: SLC14A2

Linked Data

• dbSNP Id: rs2084048452
• gnomAD v3: 18-45220198-T-C
• gnomAD v4: 18-45220198-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45220198T>C , CM000680.2:g.45220198T>C	GRCh38
NC_000018.9:g.42800163T>C , CM000680.1:g.42800163T>C	GRCh37
NC_000018.8:g.41054161T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586448.5:c.-125+7007T>C	ENSP00000465953.1:n.-125+7007T>C
NM_001242692.1:c.-125+7007T>C	NP_001229621.1:n.-125+7007T>C
XM_011526216.1:c.-251+7007T>C	XP_011524518.1:n.-251+7007T>C
XM_017026016.2:c.-125+7007T>C	XP_016881505.1:n.-125+7007T>C
XM_024451270.1:c.-125+7007T>C	XP_024307038.1:n.-125+7007T>C
XM_024451271.1:c.-125+7007T>C	XP_024307039.1:n.-125+7007T>C
NM_001242692.2:c.-125+7007T>C	NP_001229621.1:n.-125+7007T>C
NM_001371319.1:c.-125+7007T>C	NP_001358248.1:n.-125+7007T>C