Canonical Allele Identifier: CA527131051

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1304283867
• gnomAD v2: 1-169454733-T-TG
• gnomAD v3: 1-169485495-T-TG
• gnomAD v4: 1-169485495-T-TG
• MyVariant Identifiers: chr1:g.169454733_169454734insG (hg19) ; chr1:g.169485495_169485496insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485495_169485496insG , CM000663.2:g.169485495_169485496insG	GRCh38
NC_000001.10:g.169454733_169454734insG , CM000663.1:g.169454733_169454734insG	GRCh37
NC_000001.9:g.167721357_167721358insG	NCBI36
NG_008255.1:g.5475_5476insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.204+67_204+68insC MANE Select	ENSP00000236137.5:n.204+67_204+68insC
ENST00000646596.1:c.204+67_204+68insC	ENSP00000494404.1:n.204+67_204+68insC
ENST00000236137.9:c.204+67_204+68insC	ENSP00000236137.5:n.204+67_204+68insC
ENST00000367804.4:c.204+67_204+68insC	ENSP00000356778.3:n.204+67_204+68insC
NM_006996.2:c.204+67_204+68insC	NP_008927.1:n.204+67_204+68insC
XM_011509076.1:c.12+557_12+558insC	XP_011507378.1:n.12+557_12+558insC
XM_011509077.1:c.204+67_204+68insC	XP_011507379.1:n.204+67_204+68insC
NM_001319667.1:c.204+67_204+68insC	NP_001306596.1:n.204+67_204+68insC
NM_006996.3:c.204+67_204+68insC MANE Select	NP_008927.1:n.204+67_204+68insC