Canonical Allele Identifier: CA343112129

Gene: SLC19A2

Linked Data

• MyVariant Identifiers: chr1:g.169454830C>G (hg19) ; chr1:g.169485592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485592C>G , CM000663.2:g.169485592C>G	GRCh38
NC_000001.10:g.169454830C>G , CM000663.1:g.169454830C>G	GRCh37
NC_000001.9:g.167721454C>G	NCBI36
NG_008255.1:g.5379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.175G>C MANE Select	ENSP00000236137.5:p.Gly59Arg
ENST00000646596.1:c.175G>C	ENSP00000494404.1:p.Gly59Arg
ENST00000236137.9:c.175G>C	ENSP00000236137.5:p.Gly59Arg
ENST00000367804.4:c.175G>C	ENSP00000356778.3:p.Gly59Arg
NM_006996.2:c.175G>C	NP_008927.1:p.Gly59Arg
XM_011509076.1:c.12+461G>C	XP_011507378.1:n.12+461G>C
XM_011509077.1:c.175G>C	XP_011507379.1:p.Gly59Arg
NM_001319667.1:c.175G>C	NP_001306596.1:p.Gly59Arg
NM_006996.3:c.175G>C MANE Select	NP_008927.1:p.Gly59Arg