Canonical Allele Identifier: CA2649031454

Gene: SLC19A2

Linked Data

• gnomAD v4: 1-169485489-GTCCTCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485495_169485502del , CM000663.2:g.169485495_169485502del	GRCh38
NC_000001.10:g.169454733_169454740del , CM000663.1:g.169454733_169454740del	GRCh37
NC_000001.9:g.167721357_167721364del	NCBI36
NG_008255.1:g.5474_5481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.204+66_204+73del MANE Select	ENSP00000236137.5:n.204+66_204+73del
ENST00000646596.1:c.204+66_204+73del	ENSP00000494404.1:n.204+66_204+73del
ENST00000236137.9:c.204+66_204+73del	ENSP00000236137.5:n.204+66_204+73del
ENST00000367804.4:c.204+66_204+73del	ENSP00000356778.3:n.204+66_204+73del
NM_006996.2:c.204+66_204+73del	NP_008927.1:n.204+66_204+73del
XM_011509076.1:c.12+556_12+563del	XP_011507378.1:n.12+556_12+563del
XM_011509077.1:c.204+66_204+73del	XP_011507379.1:n.204+66_204+73del
NM_001319667.1:c.204+66_204+73del	NP_001306596.1:n.204+66_204+73del
NM_006996.3:c.204+66_204+73del MANE Select	NP_008927.1:n.204+66_204+73del