Canonical Allele Identifier: CA1206117371
Gene: SLC19A2 HGNC NCBI

Linked Data

dbSNP Id: rs1658544790
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485700_169485717dup , CM000663.2:g.169485700_169485717dup GRCh38
NC_000001.10:g.169454938_169454955dup , CM000663.1:g.169454938_169454955dup GRCh37
NC_000001.9:g.167721562_167721579dup NCBI36
NG_008255.1:g.5256_5273dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.52_69dup MANE Select ENSP00000236137.5:p.Ala23_Arg24insValLeuLeuArgThrAla
ENST00000646596.1:c.52_69dup ENSP00000494404.1:p.Ala23_Arg24insValLeuLeuArgThrAla
ENST00000236137.9:c.52_69dup ENSP00000236137.5:p.Ala23_Arg24insValLeuLeuArgThrAla
ENST00000367804.4:c.52_69dup ENSP00000356778.3:p.Ala23_Arg24insValLeuLeuArgThrAla
NM_006996.2:c.52_69dup NP_008927.1:p.Ala23_Arg24insValLeuLeuArgThrAla
XM_011509076.1:c.12+338_12+355dup XP_011507378.1:n.12+338_12+355dup
XM_011509077.1:c.52_69dup XP_011507379.1:p.Ala23_Arg24insValLeuLeuArgThrAla
NM_001319667.1:c.52_69dup NP_001306596.1:p.Ala23_Arg24insValLeuLeuArgThrAla
NM_006996.3:c.52_69dup MANE Select NP_008927.1:p.Ala23_Arg24insValLeuLeuArgThrAla
Search 100 bp 5'
Search 100 bp 3'