Canonical Allele Identifier: CA2649031567
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485685-C-CGCG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485686_169485688dup , CM000663.2:g.169485686_169485688dup GRCh38
NC_000001.10:g.169454924_169454926dup , CM000663.1:g.169454924_169454926dup GRCh37
NC_000001.9:g.167721548_167721550dup NCBI36
NG_008255.1:g.5283_5285dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.79_81dup MANE Select ENSP00000236137.5:p.Arg27_Glu28insArg
ENST00000646596.1:c.79_81dup ENSP00000494404.1:p.Arg27_Glu28insArg
ENST00000236137.9:c.79_81dup ENSP00000236137.5:p.Arg27_Glu28insArg
ENST00000367804.4:c.79_81dup ENSP00000356778.3:p.Arg27_Glu28insArg
NM_006996.2:c.79_81dup NP_008927.1:p.Arg27_Glu28insArg
XM_011509076.1:c.12+365_12+367dup XP_011507378.1:n.12+365_12+367dup
XM_011509077.1:c.79_81dup XP_011507379.1:p.Arg27_Glu28insArg
NM_001319667.1:c.79_81dup NP_001306596.1:p.Arg27_Glu28insArg
NM_006996.3:c.79_81dup MANE Select NP_008927.1:p.Arg27_Glu28insArg
Search 100 bp 5'
Search 100 bp 3'