Canonical Allele Identifier: CA343112652
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2038167
ClinVar RCV Id: RCV002890517
dbSNP Id: rs1658548052

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485756G>C , CM000663.2:g.169485756G>C GRCh38
NC_000001.10:g.169454994G>C , CM000663.1:g.169454994G>C GRCh37
NC_000001.9:g.167721618G>C NCBI36
NG_008255.1:g.5215C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.11C>G MANE Select ENSP00000236137.5:p.Pro4Arg
ENST00000646596.1:c.11C>G ENSP00000494404.1:p.Pro4Arg
ENST00000236137.9:c.11C>G ENSP00000236137.5:p.Pro4Arg
ENST00000367804.4:c.11C>G ENSP00000356778.3:p.Pro4Arg
NM_006996.2:c.11C>G NP_008927.1:p.Pro4Arg
XM_011509076.1:c.12+297C>G XP_011507378.1:n.12+297C>G
XM_011509077.1:c.11C>G XP_011507379.1:p.Pro4Arg
NM_001319667.1:c.11C>G NP_001306596.1:p.Pro4Arg
NM_006996.3:c.11C>G MANE Select NP_008927.1:p.Pro4Arg