Canonical Allele Identifier: CA421719742

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 2032962
• ClinVar RCV Id: RCV002881567
• gnomAD v4: 1-169485629-G-A
• MyVariant Identifiers: chr1:g.169454867G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485629G>A , CM000663.2:g.169485629G>A	GRCh38
NC_000001.10:g.169454867G>A , CM000663.1:g.169454867G>A	GRCh37
NC_000001.9:g.167721491G>A	NCBI36
NG_008255.1:g.5342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.138C>T MANE Select	ENSP00000236137.5:p.Leu46=
ENST00000646596.1:c.138C>T	ENSP00000494404.1:p.Leu46=
ENST00000236137.9:c.138C>T	ENSP00000236137.5:p.Leu46=
ENST00000367804.4:c.138C>T	ENSP00000356778.3:p.Leu46=
NM_006996.2:c.138C>T	NP_008927.1:p.Leu46=
XM_011509076.1:c.12+424C>T	XP_011507378.1:n.12+424C>T
XM_011509077.1:c.138C>T	XP_011507379.1:p.Leu46=
NM_001319667.1:c.138C>T	NP_001306596.1:p.Leu46=
NM_006996.3:c.138C>T MANE Select	NP_008927.1:p.Leu46=