Canonical Allele Identifier: CA343112216
Gene: SLC19A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485636G>T , CM000663.2:g.169485636G>T GRCh38
NC_000001.10:g.169454874G>T , CM000663.1:g.169454874G>T GRCh37
NC_000001.9:g.167721498G>T NCBI36
NG_008255.1:g.5335C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.131C>A MANE Select ENSP00000236137.5:p.Ala44Asp
ENST00000646596.1:c.131C>A ENSP00000494404.1:p.Ala44Asp
ENST00000236137.9:c.131C>A ENSP00000236137.5:p.Ala44Asp
ENST00000367804.4:c.131C>A ENSP00000356778.3:p.Ala44Asp
NM_006996.2:c.131C>A NP_008927.1:p.Ala44Asp
XM_011509076.1:c.12+417C>A XP_011507378.1:n.12+417C>A
XM_011509077.1:c.131C>A XP_011507379.1:p.Ala44Asp
NM_001319667.1:c.131C>A NP_001306596.1:p.Ala44Asp
NM_006996.3:c.131C>A MANE Select NP_008927.1:p.Ala44Asp