Canonical Allele Identifier: CA1232852

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169468154A>G , CM000663.2:g.169468154A>G	GRCh38
NC_000001.10:g.169437392A>G , CM000663.1:g.169437392A>G	GRCh37
NC_000001.9:g.167704016A>G	NCBI36
NG_008255.1:g.22817T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.1322T>C MANE Select	NP_008927.1:p.Ile441Thr
ENST00000236137.10:c.1322T>C MANE Select	ENSP00000236137.5:p.Ile441Thr
NM_001319667.1:c.719T>C	NP_001306596.1:p.Ile240Thr
NM_006996.2:c.1322T>C	NP_008927.1:p.Ile441Thr
ENST00000236137.9:c.1322T>C	ENSP00000236137.5:p.Ile441Thr
ENST00000367804.4:c.719T>C	ENSP00000356778.3:p.Ile240Thr
ENST00000643377.1:n.1044T>C
ENST00000646596.1:c.1223T>C	ENSP00000494404.1:p.Ile408Thr
XM_011509076.1:c.1130T>C	XP_011507378.1:p.Ile377Thr
XM_011509077.1:c.719T>C	XP_011507379.1:p.Ile240Thr