Canonical Allele Identifier: CA253658
Gene: SLC19A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169477447C>T
GRCh37 chr1:g.169446685C>T
Revel Score:
ENST00000236137 (MANE Select) 0.920
ENST00000367802 0.920
gnomAD v2:
1:169446685 C / T
gnomAD v3:
1:169477447 C / T
gnomAD v4:
chr1-169477447-C-T
Joint Max Group AF 0.00001063 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000006321
RCV000486790
ClinVar Variation:
5957
dbSNP:
28937595
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169477447C>T , CM000663.2:g.169477447C>T GRCh38
NC_000001.10:g.169446685C>T , CM000663.1:g.169446685C>T GRCh37
NC_000001.9:g.167713309C>T NCBI36
NG_008255.1:g.13524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.515G>A MANE Select ENSP00000236137.5:p.Gly172Asp
ENST00000646596.1:c.515G>A ENSP00000494404.1:p.Gly172Asp
ENST00000236137.9:c.515G>A ENSP00000236137.5:p.Gly172Asp
ENST00000367804.4:c.205-7261G>A ENSP00000356778.3:n.205-7261G>A
NM_006996.2:c.515G>A NP_008927.1:p.Gly172Asp
XM_011509076.1:c.323G>A XP_011507378.1:p.Gly108Asp
XM_011509077.1:c.205-7261G>A XP_011507379.1:n.205-7261G>A
NM_001319667.1:c.205-7261G>A NP_001306596.1:n.205-7261G>A
NM_006996.3:c.515G>A MANE Select NP_008927.1:p.Gly172Asp
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