Canonical Allele Identifier: CA421719760

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1553213506
• MyVariant Identifiers: chr1:g.169454875del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485637del , CM000663.2:g.169485637del	GRCh38
NC_000001.10:g.169454875del , CM000663.1:g.169454875del	GRCh37
NC_000001.9:g.167721499del	NCBI36
NG_008255.1:g.5334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.130del MANE Select	ENSP00000236137.5:p.Ala44ProfsTer10
ENST00000646596.1:c.130del	ENSP00000494404.1:p.Ala44ProfsTer10
ENST00000236137.9:c.130del	ENSP00000236137.5:p.Ala44ProfsTer10
ENST00000367804.4:c.130del	ENSP00000356778.3:p.Ala44ProfsTer10
NM_006996.2:c.130del	NP_008927.1:p.Ala44ProfsTer10
XM_011509076.1:c.12+416del	XP_011507378.1:n.12+416del
XM_011509077.1:c.130del	XP_011507379.1:p.Ala44ProfsTer10
NM_001319667.1:c.130del	NP_001306596.1:p.Ala44ProfsTer10
NM_006996.3:c.130del MANE Select	NP_008927.1:p.Ala44ProfsTer10