Canonical Allele Identifier: CA343112090
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229943
ClinVar RCV Id: RCV002712688
dbSNP Id: rs868402857
gnomAD v3: 1-169485574-T-A
gnomAD v4: 1-169485574-T-A
MyVariant Identifiers: chr1:g.169454812T>A (hg19) chr1:g.169485574T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485574T>A , CM000663.2:g.169485574T>A GRCh38
NC_000001.10:g.169454812T>A , CM000663.1:g.169454812T>A GRCh37
NC_000001.9:g.167721436T>A NCBI36
NG_008255.1:g.5397A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.193A>T MANE Select ENSP00000236137.5:p.Thr65Ser
ENST00000646596.1:c.193A>T ENSP00000494404.1:p.Thr65Ser
ENST00000236137.9:c.193A>T ENSP00000236137.5:p.Thr65Ser
ENST00000367804.4:c.193A>T ENSP00000356778.3:p.Thr65Ser
NM_006996.2:c.193A>T NP_008927.1:p.Thr65Ser
XM_011509076.1:c.12+479A>T XP_011507378.1:n.12+479A>T
XM_011509077.1:c.193A>T XP_011507379.1:p.Thr65Ser
NM_001319667.1:c.193A>T NP_001306596.1:p.Thr65Ser
NM_006996.3:c.193A>T MANE Select NP_008927.1:p.Thr65Ser
Search 100 bp 5'
Search 100 bp 3'