Canonical Allele Identifier: CA253659

Gene: SLC19A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169477212C>T , CM000663.2:g.169477212C>T	GRCh38
NC_000001.10:g.169446450C>T , CM000663.1:g.169446450C>T	GRCh37
NC_000001.9:g.167713074C>T	NCBI36
NG_008255.1:g.13759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.750G>A MANE Select	ENSP00000236137.5:p.Trp250Ter
ENST00000646596.1:c.750G>A	ENSP00000494404.1:p.Trp250Ter
ENST00000236137.9:c.750G>A	ENSP00000236137.5:p.Trp250Ter
ENST00000367804.4:c.205-7026G>A	ENSP00000356778.3:n.205-7026G>A
NM_006996.2:c.750G>A	NP_008927.1:p.Trp250Ter
XM_011509076.1:c.558G>A	XP_011507378.1:p.Trp186Ter
XM_011509077.1:c.205-7026G>A	XP_011507379.1:n.205-7026G>A
NM_001319667.1:c.205-7026G>A	NP_001306596.1:n.205-7026G>A
NM_006996.3:c.750G>A MANE Select	NP_008927.1:p.Trp250Ter