Canonical Allele Identifier: CA32390662
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190774
ClinVar RCV Id: RCV002628241 RCV004070558
dbSNP Id: rs910991540
gnomAD v2: 1-169454928-C-A
gnomAD v3: 1-169485690-C-A
gnomAD v4: 1-169485690-C-A
MyVariant Identifiers: chr1:g.169454928C>A (hg19) chr1:g.169485690C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485690C>A , CM000663.2:g.169485690C>A GRCh38
NC_000001.10:g.169454928C>A , CM000663.1:g.169454928C>A GRCh37
NC_000001.9:g.167721552C>A NCBI36
NG_008255.1:g.5281G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.77G>T MANE Select ENSP00000236137.5:p.Arg26Leu
ENST00000646596.1:c.77G>T ENSP00000494404.1:p.Arg26Leu
ENST00000236137.9:c.77G>T ENSP00000236137.5:p.Arg26Leu
ENST00000367804.4:c.77G>T ENSP00000356778.3:p.Arg26Leu
NM_006996.2:c.77G>T NP_008927.1:p.Arg26Leu
XM_011509076.1:c.12+363G>T XP_011507378.1:n.12+363G>T
XM_011509077.1:c.77G>T XP_011507379.1:p.Arg26Leu
NM_001319667.1:c.77G>T NP_001306596.1:p.Arg26Leu
NM_006996.3:c.77G>T MANE Select NP_008927.1:p.Arg26Leu
Search 100 bp 5'
Search 100 bp 3'