Canonical Allele Identifier: CA402332302

Gene: SLC14A2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45672918G>C , CM000680.2:g.45672918G>C	GRCh38
NC_000018.9:g.43252883G>C , CM000680.1:g.43252883G>C	GRCh37
NC_000018.8:g.41506881G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007163.4:c.2248G>C MANE Select	NP_009094.3:p.Val750Leu
ENST00000255226.11:c.2248G>C MANE Select	ENSP00000255226.5:p.Val750Leu
NM_001242692.1:c.2248G>C	NP_001229621.1:p.Val750Leu
NM_001242692.2:c.2248G>C	NP_001229621.1:p.Val750Leu
NM_001371319.1:c.2248G>C	NP_001358248.1:p.Val750Leu
NM_007163.3:c.2248G>C	NP_009094.3:p.Val750Leu
ENST00000255226.10:c.2248G>C	ENSP00000255226.5:p.Val750Leu
ENST00000586448.5:c.2248G>C	ENSP00000465953.1:p.Val750Leu
ENST00000589658.5:c.2248G>C	ENSP00000465349.2:p.Val750Leu
XM_011526216.1:c.2248G>C	XP_011524518.1:p.Val750Leu
XM_011526217.1:c.2113G>C	XP_011524519.1:p.Val705Leu
XM_017026016.2:c.2113G>C	XP_016881505.1:p.Val705Leu
XM_024451270.1:c.2248G>C	XP_024307038.1:p.Val750Leu
XM_024451271.1:c.2248G>C	XP_024307039.1:p.Val750Leu
XR_935423.2:n.872+19477C>G