Canonical Allele Identifier: CA343112671
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2615475
ClinVar RCV Id: RCV003367445

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485761A>C , CM000663.2:g.169485761A>C GRCh38
NC_000001.10:g.169454999A>C , CM000663.1:g.169454999A>C GRCh37
NC_000001.9:g.167721623A>C NCBI36
NG_008255.1:g.5210T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.6T>G MANE Select ENSP00000236137.5:p.Asp2Glu
ENST00000646596.1:c.6T>G ENSP00000494404.1:p.Asp2Glu
ENST00000236137.9:c.6T>G ENSP00000236137.5:p.Asp2Glu
ENST00000367804.4:c.6T>G ENSP00000356778.3:p.Asp2Glu
NM_006996.2:c.6T>G NP_008927.1:p.Asp2Glu
XM_011509076.1:c.12+292T>G XP_011507378.1:n.12+292T>G
XM_011509077.1:c.6T>G XP_011507379.1:p.Asp2Glu
NM_001319667.1:c.6T>G NP_001306596.1:p.Asp2Glu
NM_006996.3:c.6T>G MANE Select NP_008927.1:p.Asp2Glu