Canonical Allele Identifier: CA1233018
Gene: SLC19A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169477212C>G
GRCh37 chr1:g.169446450C>G
Revel Score:
ENST00000236137 (MANE Select) 0.357
gnomAD v2:
1:169446450 C / G
gnomAD v3:
1:169477212 C / G
gnomAD v4:
chr1-169477212-C-G
Joint Max Group AF 0.00006616 (AMR)
Genomes Max Group AF 0.0000529 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
ClinVar RCV:
RCV003069107
ClinVar Variation:
2154103
dbSNP:
74315374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169477212C>G , CM000663.2:g.169477212C>G GRCh38
NC_000001.10:g.169446450C>G , CM000663.1:g.169446450C>G GRCh37
NC_000001.9:g.167713074C>G NCBI36
NG_008255.1:g.13759G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.750G>C MANE Select ENSP00000236137.5:p.Trp250Cys
ENST00000646596.1:c.750G>C ENSP00000494404.1:p.Trp250Cys
ENST00000236137.9:c.750G>C ENSP00000236137.5:p.Trp250Cys
ENST00000367804.4:c.205-7026G>C ENSP00000356778.3:n.205-7026G>C
NM_006996.2:c.750G>C NP_008927.1:p.Trp250Cys
XM_011509076.1:c.558G>C XP_011507378.1:p.Trp186Cys
XM_011509077.1:c.205-7026G>C XP_011507379.1:n.205-7026G>C
NM_001319667.1:c.205-7026G>C NP_001306596.1:n.205-7026G>C
NM_006996.3:c.750G>C MANE Select NP_008927.1:p.Trp250Cys
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