Canonical Allele Identifier: CA527131091
Gene: SLC19A2 HGNC NCBI

Linked Data

dbSNP Id: rs776444312

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485732_169485737dup , CM000663.2:g.169485732_169485737dup GRCh38
NC_000001.10:g.169454970_169454975dup , CM000663.1:g.169454970_169454975dup GRCh37
NC_000001.9:g.167721594_167721599dup NCBI36
NG_008255.1:g.5246_5251dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.42_47dup MANE Select ENSP00000236137.5:p.Ala16_Thr17insAlaAla
ENST00000646596.1:c.42_47dup ENSP00000494404.1:p.Ala16_Thr17insAlaAla
ENST00000236137.9:c.42_47dup ENSP00000236137.5:p.Ala16_Thr17insAlaAla
ENST00000367804.4:c.42_47dup ENSP00000356778.3:p.Ala16_Thr17insAlaAla
NM_006996.2:c.42_47dup NP_008927.1:p.Ala16_Thr17insAlaAla
XM_011509076.1:c.12+328_12+333dup XP_011507378.1:n.12+328_12+333dup
XM_011509077.1:c.42_47dup XP_011507379.1:p.Ala16_Thr17insAlaAla
NM_001319667.1:c.42_47dup NP_001306596.1:p.Ala16_Thr17insAlaAla
NM_006996.3:c.42_47dup MANE Select NP_008927.1:p.Ala16_Thr17insAlaAla