Canonical Allele Identifier: CA32390652
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2958655
ClinVar RCV Id: RCV003816878
dbSNP Id: rs757380217
gnomAD v2: 1-169454924-G-C
gnomAD v3: 1-169485686-G-C
gnomAD v4: 1-169485686-G-C
MyVariant Identifiers: chr1:g.169454924G>C (hg19) chr1:g.169485686G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485686G>C , CM000663.2:g.169485686G>C GRCh38
NC_000001.10:g.169454924G>C , CM000663.1:g.169454924G>C GRCh37
NC_000001.9:g.167721548G>C NCBI36
NG_008255.1:g.5285C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.81C>G MANE Select ENSP00000236137.5:p.Arg27=
ENST00000646596.1:c.81C>G ENSP00000494404.1:p.Arg27=
ENST00000236137.9:c.81C>G ENSP00000236137.5:p.Arg27=
ENST00000367804.4:c.81C>G ENSP00000356778.3:p.Arg27=
NM_006996.2:c.81C>G NP_008927.1:p.Arg27=
XM_011509076.1:c.12+367C>G XP_011507378.1:n.12+367C>G
XM_011509077.1:c.81C>G XP_011507379.1:p.Arg27=
NM_001319667.1:c.81C>G NP_001306596.1:p.Arg27=
NM_006996.3:c.81C>G MANE Select NP_008927.1:p.Arg27=
Search 100 bp 5'
Search 100 bp 3'