Canonical Allele Identifier: CA343112183

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 2854646
• ClinVar RCV Id: RCV003688748
• gnomAD v4: 1-169485619-C-A
• MyVariant Identifiers: chr1:g.169454857C>A (hg19) ; chr1:g.169485619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485619C>A , CM000663.2:g.169485619C>A	GRCh38
NC_000001.10:g.169454857C>A , CM000663.1:g.169454857C>A	GRCh37
NC_000001.9:g.167721481C>A	NCBI36
NG_008255.1:g.5352G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236137.10:c.148G>T MANE Select	ENSP00000236137.5:p.Glu50Ter
ENST00000646596.1:c.148G>T	ENSP00000494404.1:p.Glu50Ter
ENST00000236137.9:c.148G>T	ENSP00000236137.5:p.Glu50Ter
ENST00000367804.4:c.148G>T	ENSP00000356778.3:p.Glu50Ter
NM_006996.2:c.148G>T	NP_008927.1:p.Glu50Ter
XM_011509076.1:c.12+434G>T	XP_011507378.1:n.12+434G>T
XM_011509077.1:c.148G>T	XP_011507379.1:p.Glu50Ter
NM_001319667.1:c.148G>T	NP_001306596.1:p.Glu50Ter
NM_006996.3:c.148G>T MANE Select	NP_008927.1:p.Glu50Ter