Canonical Allele Identifier: CA2649031564

Gene: SLC19A2

Linked Data

• gnomAD v4: 1-169485634-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485636del , CM000663.2:g.169485636del	GRCh38
NC_000001.10:g.169454874del , CM000663.1:g.169454874del	GRCh37
NC_000001.9:g.167721498del	NCBI36
NG_008255.1:g.5336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.132del MANE Select	ENSP00000236137.5:p.Ser45AlafsTer9
ENST00000646596.1:c.132del	ENSP00000494404.1:p.Ser45AlafsTer9
ENST00000236137.9:c.132del	ENSP00000236137.5:p.Ser45AlafsTer9
ENST00000367804.4:c.132del	ENSP00000356778.3:p.Ser45AlafsTer9
NM_006996.2:c.132del	NP_008927.1:p.Ser45AlafsTer9
XM_011509076.1:c.12+418del	XP_011507378.1:n.12+418del
XM_011509077.1:c.132del	XP_011507379.1:p.Ser45AlafsTer9
NM_001319667.1:c.132del	NP_001306596.1:p.Ser45AlafsTer9
NM_006996.3:c.132del MANE Select	NP_008927.1:p.Ser45AlafsTer9