Canonical Allele Identifier: CA253663
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5964
ClinVar RCV Id: RCV000006328
dbSNP Id: rs121908540

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485615G>A , CM000663.2:g.169485615G>A GRCh38
NC_000001.10:g.169454853G>A , CM000663.1:g.169454853G>A GRCh37
NC_000001.9:g.167721477G>A NCBI36
NG_008255.1:g.5356C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.152C>T MANE Select ENSP00000236137.5:p.Pro51Leu
ENST00000646596.1:c.152C>T ENSP00000494404.1:p.Pro51Leu
ENST00000236137.9:c.152C>T ENSP00000236137.5:p.Pro51Leu
ENST00000367804.4:c.152C>T ENSP00000356778.3:p.Pro51Leu
NM_006996.2:c.152C>T NP_008927.1:p.Pro51Leu
XM_011509076.1:c.12+438C>T XP_011507378.1:n.12+438C>T
XM_011509077.1:c.152C>T XP_011507379.1:p.Pro51Leu
NM_001319667.1:c.152C>T NP_001306596.1:p.Pro51Leu
NM_006996.3:c.152C>T MANE Select NP_008927.1:p.Pro51Leu