Canonical Allele Identifier: CA395755114

Gene: SLC5A2

Linked Data

• dbSNP Id: rs959853124
• gnomAD v2: 16-31500263-A-G
• gnomAD v3: 16-31488942-A-G
• gnomAD v4: 16-31488942-A-G
• MyVariant Identifiers: chr16:g.31500263A>G (hg19) ; chr16:g.31488942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488942A>G , CM000678.2:g.31488942A>G	GRCh38
NC_000016.9:g.31500263A>G , CM000678.1:g.31500263A>G	GRCh37
NC_000016.8:g.31407764A>G	NCBI36
NG_012892.1:g.10825A>G
NG_033149.1:g.24478T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1343A>G MANE Select	ENSP00000327943.3:p.Gln448Arg
ENST00000330498.3:c.1343A>G	ENSP00000327943.3:p.Gln448Arg
ENST00000419665.6:c.1130-181A>G	ENSP00000410601.2:n.1130-181A>G
ENST00000568188.1:n.714A>G
ENST00000568891.1:n.282-181A>G
NM_003041.3:c.1343A>G	NP_003032.1:p.Gln448Arg
NR_130783.1:n.1149-181A>G
XM_006721072.2:c.1364A>G	XP_006721135.2:p.Gln455Arg
XM_006721073.2:c.1301+170A>G	XP_006721136.2:n.1301+170A>G
XM_006721072.4:c.1364A>G	XP_006721135.2:p.Gln455Arg
XM_024450402.1:c.1151-181A>G	XP_024306170.1:n.1151-181A>G
NM_003041.4:c.1343A>G MANE Select	NP_003032.1:p.Gln448Arg
NR_130783.2:n.1144-181A>G