Canonical Allele Identifier: CA1206117341
Gene: SLC19A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485640_169485641delinsAG , CM000663.2:g.169485640_169485641delinsAG GRCh38
NC_000001.10:g.169454878_169454879delinsAG , CM000663.1:g.169454878_169454879delinsAG GRCh37
NC_000001.9:g.167721502_167721503delinsAG NCBI36
NG_008255.1:g.5330_5331delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.126_127delinsCT MANE Select ENSP00000236137.5:p.Phe42=
ENST00000646596.1:c.126_127delinsCT ENSP00000494404.1:p.Phe42=
ENST00000236137.9:c.126_127delinsCT ENSP00000236137.5:p.Phe42=
ENST00000367804.4:c.126_127delinsCT ENSP00000356778.3:p.Phe42=
NM_006996.2:c.126_127delinsCT NP_008927.1:p.Phe42=
XM_011509076.1:c.12+412_12+413delinsCT XP_011507378.1:n.12+412_12+413delinsCT
XM_011509077.1:c.126_127delinsCT XP_011507379.1:p.Phe42=
NM_001319667.1:c.126_127delinsCT NP_001306596.1:p.Phe42=
NM_006996.3:c.126_127delinsCT MANE Select NP_008927.1:p.Phe42=