Canonical Allele Identifier: CA343112160
Gene: SLC19A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485609A>C , CM000663.2:g.169485609A>C GRCh38
NC_000001.10:g.169454847A>C , CM000663.1:g.169454847A>C GRCh37
NC_000001.9:g.167721471A>C NCBI36
NG_008255.1:g.5362T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.158T>G MANE Select ENSP00000236137.5:p.Leu53Arg
ENST00000646596.1:c.158T>G ENSP00000494404.1:p.Leu53Arg
ENST00000236137.9:c.158T>G ENSP00000236137.5:p.Leu53Arg
ENST00000367804.4:c.158T>G ENSP00000356778.3:p.Leu53Arg
NM_006996.2:c.158T>G NP_008927.1:p.Leu53Arg
XM_011509076.1:c.12+444T>G XP_011507378.1:n.12+444T>G
XM_011509077.1:c.158T>G XP_011507379.1:p.Leu53Arg
NM_001319667.1:c.158T>G NP_001306596.1:p.Leu53Arg
NM_006996.3:c.158T>G MANE Select NP_008927.1:p.Leu53Arg