Canonical Allele Identifier: CA2746576880

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485596del , CM000663.2:g.169485596del	GRCh38
NC_000001.10:g.169454834del , CM000663.1:g.169454834del	GRCh37
NC_000001.9:g.167721458del	NCBI36
NG_008255.1:g.5375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.171del MANE Select	ENSP00000236137.5:p.Leu58TrpfsTer7
ENST00000646596.1:c.171del	ENSP00000494404.1:p.Leu58TrpfsTer7
ENST00000236137.9:c.171del	ENSP00000236137.5:p.Leu58TrpfsTer7
ENST00000367804.4:c.171del	ENSP00000356778.3:p.Leu58TrpfsTer7
NM_006996.2:c.171del	NP_008927.1:p.Leu58TrpfsTer7
XM_011509076.1:c.12+457del	XP_011507378.1:n.12+457del
XM_011509077.1:c.171del	XP_011507379.1:p.Leu58TrpfsTer7
NM_001319667.1:c.171del	NP_001306596.1:p.Leu58TrpfsTer7
NM_006996.3:c.171del MANE Select	NP_008927.1:p.Leu58TrpfsTer7