Canonical Allele Identifier: CA343112182
Gene: SLC19A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485618T>G , CM000663.2:g.169485618T>G GRCh38
NC_000001.10:g.169454856T>G , CM000663.1:g.169454856T>G GRCh37
NC_000001.9:g.167721480T>G NCBI36
NG_008255.1:g.5353A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.149A>C MANE Select ENSP00000236137.5:p.Glu50Ala
ENST00000646596.1:c.149A>C ENSP00000494404.1:p.Glu50Ala
ENST00000236137.9:c.149A>C ENSP00000236137.5:p.Glu50Ala
ENST00000367804.4:c.149A>C ENSP00000356778.3:p.Glu50Ala
NM_006996.2:c.149A>C NP_008927.1:p.Glu50Ala
XM_011509076.1:c.12+435A>C XP_011507378.1:n.12+435A>C
XM_011509077.1:c.149A>C XP_011507379.1:p.Glu50Ala
NM_001319667.1:c.149A>C NP_001306596.1:p.Glu50Ala
NM_006996.3:c.149A>C MANE Select NP_008927.1:p.Glu50Ala