Canonical Allele Identifier: CA32390771
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1045678
dbSNP Id: rs776444312

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485735_169485737dup , CM000663.2:g.169485735_169485737dup GRCh38
NC_000001.10:g.169454973_169454975dup , CM000663.1:g.169454973_169454975dup GRCh37
NC_000001.9:g.167721597_167721599dup NCBI36
NG_008255.1:g.5249_5251dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.45_47dup MANE Select ENSP00000236137.5:p.Ala16_Thr17insAla
ENST00000646596.1:c.45_47dup ENSP00000494404.1:p.Ala16_Thr17insAla
ENST00000236137.9:c.45_47dup ENSP00000236137.5:p.Ala16_Thr17insAla
ENST00000367804.4:c.45_47dup ENSP00000356778.3:p.Ala16_Thr17insAla
NM_006996.2:c.45_47dup NP_008927.1:p.Ala16_Thr17insAla
XM_011509076.1:c.12+331_12+333dup XP_011507378.1:n.12+331_12+333dup
XM_011509077.1:c.45_47dup XP_011507379.1:p.Ala16_Thr17insAla
NM_001319667.1:c.45_47dup NP_001306596.1:p.Ala16_Thr17insAla
NM_006996.3:c.45_47dup MANE Select NP_008927.1:p.Ala16_Thr17insAla