Canonical Allele Identifier: CA343109823

Gene: SLC19A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.750G>T MANE Select	NP_008927.1:p.Trp250Cys
ENST00000236137.10:c.750G>T MANE Select	ENSP00000236137.5:p.Trp250Cys
NM_001319667.1:c.205-7026G>T	NP_001306596.1:n.205-7026G>T
NM_006996.2:c.750G>T	NP_008927.1:p.Trp250Cys
ENST00000236137.9:c.750G>T	ENSP00000236137.5:p.Trp250Cys
ENST00000367804.4:c.205-7026G>T	ENSP00000356778.3:n.205-7026G>T
ENST00000646596.1:c.750G>T	ENSP00000494404.1:p.Trp250Cys
XM_011509076.1:c.558G>T	XP_011507378.1:p.Trp186Cys
XM_011509077.1:c.205-7026G>T	XP_011507379.1:n.205-7026G>T