Canonical Allele Identifier: CA1233071
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492806
ClinVar RCV Id: RCV000582702 RCV002530823
dbSNP Id: rs761957186
ExAC: 1:169446772 G / A
gnomAD v2: 1-169446772-G-A
gnomAD v4: 1-169477534-G-A
MyVariant Identifiers: chr1:g.169446772G>A (hg19) chr1:g.169477534G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169477534G>A , CM000663.2:g.169477534G>A GRCh38
NC_000001.10:g.169446772G>A , CM000663.1:g.169446772G>A GRCh37
NC_000001.9:g.167713396G>A NCBI36
NG_008255.1:g.13437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.428C>T MANE Select ENSP00000236137.5:p.Ser143Phe
ENST00000646596.1:c.428C>T ENSP00000494404.1:p.Ser143Phe
ENST00000236137.9:c.428C>T ENSP00000236137.5:p.Ser143Phe
ENST00000367804.4:c.205-7348C>T ENSP00000356778.3:n.205-7348C>T
NM_006996.2:c.428C>T NP_008927.1:p.Ser143Phe
XM_011509076.1:c.236C>T XP_011507378.1:p.Ser79Phe
XM_011509077.1:c.205-7348C>T XP_011507379.1:n.205-7348C>T
NM_001319667.1:c.205-7348C>T NP_001306596.1:n.205-7348C>T
NM_006996.3:c.428C>T MANE Select NP_008927.1:p.Ser143Phe
Search 100 bp 5'
Search 100 bp 3'