Canonical Allele Identifier: CA253661
Gene: SLC19A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169468793C>T , CM000663.2:g.169468793C>T GRCh38
NC_000001.10:g.169438031C>T , CM000663.1:g.169438031C>T GRCh37
NC_000001.9:g.167704655C>T NCBI36
NG_008255.1:g.22178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.1074G>A MANE Select ENSP00000236137.5:p.Trp358Ter
ENST00000643377.1:n.405G>A
ENST00000646596.1:c.1031-56G>A ENSP00000494404.1:n.1031-56G>A
ENST00000236137.9:c.1074G>A ENSP00000236137.5:p.Trp358Ter
ENST00000367804.4:c.471G>A ENSP00000356778.3:p.Trp157Ter
NM_006996.2:c.1074G>A NP_008927.1:p.Trp358Ter
XM_011509076.1:c.882G>A XP_011507378.1:p.Trp294Ter
XM_011509077.1:c.471G>A XP_011507379.1:p.Trp157Ter
NM_001319667.1:c.471G>A NP_001306596.1:p.Trp157Ter
NM_006996.3:c.1074G>A MANE Select NP_008927.1:p.Trp358Ter