Canonical Allele Identifier: CA343110320

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169477447C>G , CM000663.2:g.169477447C>G	GRCh38
NC_000001.10:g.169446685C>G , CM000663.1:g.169446685C>G	GRCh37
NC_000001.9:g.167713309C>G	NCBI36
NG_008255.1:g.13524G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.515G>C MANE Select	NP_008927.1:p.Gly172Ala
ENST00000236137.10:c.515G>C MANE Select	ENSP00000236137.5:p.Gly172Ala
NM_001319667.1:c.205-7261G>C	NP_001306596.1:n.205-7261G>C
NM_006996.2:c.515G>C	NP_008927.1:p.Gly172Ala
ENST00000236137.9:c.515G>C	ENSP00000236137.5:p.Gly172Ala
ENST00000367804.4:c.205-7261G>C	ENSP00000356778.3:n.205-7261G>C
ENST00000646596.1:c.515G>C	ENSP00000494404.1:p.Gly172Ala
XM_011509076.1:c.323G>C	XP_011507378.1:p.Gly108Ala
XM_011509077.1:c.205-7261G>C	XP_011507379.1:n.205-7261G>C