Canonical Allele Identifier: CA1233008

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169477167G>A , CM000663.2:g.169477167G>A	GRCh38
NC_000001.10:g.169446405G>A , CM000663.1:g.169446405G>A	GRCh37
NC_000001.9:g.167713029G>A	NCBI36
NG_008255.1:g.13804C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.795C>T MANE Select	NP_008927.1:p.Pro265=
ENST00000236137.10:c.795C>T MANE Select	ENSP00000236137.5:p.Pro265=
NM_001319667.1:c.205-6981C>T	NP_001306596.1:n.205-6981C>T
NM_006996.2:c.795C>T	NP_008927.1:p.Pro265=
ENST00000236137.9:c.795C>T	ENSP00000236137.5:p.Pro265=
ENST00000367804.4:c.205-6981C>T	ENSP00000356778.3:n.205-6981C>T
ENST00000646596.1:c.795C>T	ENSP00000494404.1:p.Pro265=
XM_011509076.1:c.603C>T	XP_011507378.1:p.Pro201=
XM_011509077.1:c.205-6981C>T	XP_011507379.1:n.205-6981C>T