Canonical Allele Identifier: CA155213

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169468787A>G , CM000663.2:g.169468787A>G	GRCh38
NC_000001.10:g.169438025A>G , CM000663.1:g.169438025A>G	GRCh37
NC_000001.9:g.167704649A>G	NCBI36
NG_008255.1:g.22184T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.1080T>C MANE Select	NP_008927.1:p.Thr360=
ENST00000236137.10:c.1080T>C MANE Select	ENSP00000236137.5:p.Thr360=
NM_001319667.1:c.477T>C	NP_001306596.1:p.Thr159=
NM_006996.2:c.1080T>C	NP_008927.1:p.Thr360=
ENST00000236137.9:c.1080T>C	ENSP00000236137.5:p.Thr360=
ENST00000367804.4:c.477T>C	ENSP00000356778.3:p.Thr159=
ENST00000643377.1:n.411T>C
ENST00000646596.1:c.1031-50T>C	ENSP00000494404.1:n.1031-50T>C
XM_011509076.1:c.888T>C	XP_011507378.1:p.Thr296=
XM_011509077.1:c.477T>C	XP_011507379.1:p.Thr159=