Canonical Allele Identifier: CA2739275382
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2792939
ClinVar RCV Id: RCV003667543
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485676_169485677delinsGT , CM000663.2:g.169485676_169485677delinsGT GRCh38
NC_000001.10:g.169454914_169454915delinsGT , CM000663.1:g.169454914_169454915delinsGT GRCh37
NC_000001.9:g.167721538_167721539delinsGT NCBI36
NG_008255.1:g.5294_5295delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.90_91delinsAC MANE Select ENSP00000236137.5:p.Trp30Ter
ENST00000646596.1:c.90_91delinsAC ENSP00000494404.1:p.Trp30Ter
ENST00000236137.9:c.90_91delinsAC ENSP00000236137.5:p.Trp30Ter
ENST00000367804.4:c.90_91delinsAC ENSP00000356778.3:p.Trp30Ter
NM_006996.2:c.90_91delinsAC NP_008927.1:p.Trp30Ter
XM_011509076.1:c.12+376_12+377delinsAC XP_011507378.1:n.12+376_12+377delinsAC
XM_011509077.1:c.90_91delinsAC XP_011507379.1:p.Trp30Ter
NM_001319667.1:c.90_91delinsAC NP_001306596.1:p.Trp30Ter
NM_006996.3:c.90_91delinsAC MANE Select NP_008927.1:p.Trp30Ter
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