Canonical Allele Identifier: CA343112236
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034343
ClinVar RCV Id: RCV001337041
dbSNP Id: rs1490832268
gnomAD v2: 1-169454881-A-C
gnomAD v3: 1-169485643-A-C
gnomAD v4: 1-169485643-A-C
COSMIC: COSM5705019
MyVariant Identifiers: chr1:g.169454881A>C (hg19) chr1:g.169485643A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485643A>C , CM000663.2:g.169485643A>C GRCh38
NC_000001.10:g.169454881A>C , CM000663.1:g.169454881A>C GRCh37
NC_000001.9:g.167721505A>C NCBI36
NG_008255.1:g.5328T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.124T>G MANE Select ENSP00000236137.5:p.Phe42Val
ENST00000646596.1:c.124T>G ENSP00000494404.1:p.Phe42Val
ENST00000236137.9:c.124T>G ENSP00000236137.5:p.Phe42Val
ENST00000367804.4:c.124T>G ENSP00000356778.3:p.Phe42Val
NM_006996.2:c.124T>G NP_008927.1:p.Phe42Val
XM_011509076.1:c.12+410T>G XP_011507378.1:n.12+410T>G
XM_011509077.1:c.124T>G XP_011507379.1:p.Phe42Val
NM_001319667.1:c.124T>G NP_001306596.1:p.Phe42Val
NM_006996.3:c.124T>G MANE Select NP_008927.1:p.Phe42Val
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Search 100 bp 3'