Canonical Allele Identifier: CA155215
Community Standard Title: NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=)
Gene: SLC19A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169468652C>T , CM000663.2:g.169468652C>T GRCh38
NC_000001.10:g.169437890C>T , CM000663.1:g.169437890C>T GRCh37
NC_000001.9:g.167704514C>T NCBI36
NG_008255.1:g.22319G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006996.3:c.1215G>A MANE Select NP_008927.1:p.Thr405=
ENST00000236137.10:c.1215G>A MANE Select ENSP00000236137.5:p.Thr405=
NM_001319667.1:c.612G>A NP_001306596.1:p.Thr204=
NM_006996.2:c.1215G>A NP_008927.1:p.Thr405=
ENST00000236137.9:c.1215G>A ENSP00000236137.5:p.Thr405=
ENST00000367804.4:c.612G>A ENSP00000356778.3:p.Thr204=
ENST00000643377.1:n.546G>A
ENST00000646596.1:c.1116G>A ENSP00000494404.1:p.Thr372=
XM_011509076.1:c.1023G>A XP_011507378.1:p.Thr341=
XM_011509077.1:c.612G>A XP_011507379.1:p.Thr204=