Canonical Allele Identifier: CA421719837

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 2973087
• ClinVar RCV Id: RCV003830181
• dbSNP Id: rs1658544402
• MyVariant Identifiers: chr1:g.169454930G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485692G>C , CM000663.2:g.169485692G>C	GRCh38
NC_000001.10:g.169454930G>C , CM000663.1:g.169454930G>C	GRCh37
NC_000001.9:g.167721554G>C	NCBI36
NG_008255.1:g.5279C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.75C>G MANE Select	ENSP00000236137.5:p.Val25=
ENST00000646596.1:c.75C>G	ENSP00000494404.1:p.Val25=
ENST00000236137.9:c.75C>G	ENSP00000236137.5:p.Val25=
ENST00000367804.4:c.75C>G	ENSP00000356778.3:p.Val25=
NM_006996.2:c.75C>G	NP_008927.1:p.Val25=
XM_011509076.1:c.12+361C>G	XP_011507378.1:n.12+361C>G
XM_011509077.1:c.75C>G	XP_011507379.1:p.Val25=
NM_001319667.1:c.75C>G	NP_001306596.1:p.Val25=
NM_006996.3:c.75C>G MANE Select	NP_008927.1:p.Val25=