Canonical Allele Identifier: CA10608255
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 293507
ClinVar RCV Id: RCV000323548 RCV000378252
dbSNP Id: rs12091844
gnomAD v2: 1-169433273-C-T
gnomAD v3: 1-169464035-C-T
gnomAD v4: 1-169464035-C-T
MyVariant Identifiers: chr1:g.169433273C>T (hg19) chr1:g.169464035C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169464035C>T , CM000663.2:g.169464035C>T GRCh38
NC_000001.10:g.169433273C>T , CM000663.1:g.169433273C>T GRCh37
NC_000001.9:g.167699897C>T NCBI36
NG_008255.1:g.26936G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.*1814G>A MANE Select ENSP00000236137.5:n.*1814G>A
ENST00000643377.1:n.3030G>A
ENST00000236137.9:c.*1814G>A ENSP00000236137.5:n.*1814G>A
ENST00000367804.4:c.*1814G>A ENSP00000356778.3:n.*1814G>A
NM_006996.2:c.*1814G>A NP_008927.1:n.*1814G>A
XM_011509076.1:c.*1814G>A XP_011507378.1:n.*1814G>A
XM_011509077.1:c.*1814G>A XP_011507379.1:n.*1814G>A
NM_001319667.1:c.*1814G>A NP_001306596.1:n.*1814G>A
NM_006996.3:c.*1814G>A MANE Select NP_008927.1:n.*1814G>A
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