Canonical Allele Identifier: CA2649031561

Gene: SLC19A2

Linked Data

• gnomAD v4: 1-169485569-C-CTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485572_169485575dup , CM000663.2:g.169485572_169485575dup	GRCh38
NC_000001.10:g.169454810_169454813dup , CM000663.1:g.169454810_169454813dup	GRCh37
NC_000001.9:g.167721434_167721437dup	NCBI36
NG_008255.1:g.5398_5401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.194_197dup MANE Select	ENSP00000236137.5:p.Glu66AspfsTer8
ENST00000646596.1:c.194_197dup	ENSP00000494404.1:p.Glu66AspfsTer8
ENST00000236137.9:c.194_197dup	ENSP00000236137.5:p.Glu66AspfsTer8
ENST00000367804.4:c.194_197dup	ENSP00000356778.3:p.Glu66AspfsTer20
NM_006996.2:c.194_197dup	NP_008927.1:p.Glu66AspfsTer8
XM_011509076.1:c.12+480_12+483dup	XP_011507378.1:n.12+480_12+483dup
XM_011509077.1:c.194_197dup	XP_011507379.1:p.Glu66AspfsTer20
NM_001319667.1:c.194_197dup	NP_001306596.1:p.Glu66AspfsTer20
NM_006996.3:c.194_197dup MANE Select	NP_008927.1:p.Glu66AspfsTer8