Canonical Allele Identifier: CA174434

Gene: SLC5A2

Linked Data

• ClinVar Variation Id: 161605
• ClinVar RCV Id: RCV000149141 ; RCV003137648 ; RCV003398793
• dbSNP Id: rs193920818
• ExAC: 16:31497141 G / A
• gnomAD v2: 16-31497141-G-A
• gnomAD v3: 16-31485820-G-A
• gnomAD v4: 16-31485820-G-A
• COSMIC: COSM1179631
• MyVariant Identifiers: chr16:g.31497141G>A (hg19) ; chr16:g.31485820G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31485820G>A , CM000678.2:g.31485820G>A	GRCh38
NC_000016.9:g.31497141G>A , CM000678.1:g.31497141G>A	GRCh37
NC_000016.8:g.31404642G>A	NCBI36
NG_012892.1:g.7703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.395G>A MANE Select	ENSP00000327943.3:p.Arg132His
ENST00000330498.3:c.395G>A	ENSP00000327943.3:p.Arg132His
ENST00000419665.6:c.395G>A	ENSP00000410601.2:p.Arg132His
ENST00000565446.1:n.269G>A
ENST00000569576.5:c.266G>A	ENSP00000455143.1:p.Arg89His
NM_003041.3:c.395G>A	NP_003032.1:p.Arg132His
NR_130783.1:n.414G>A
XM_006721072.2:c.416G>A	XP_006721135.2:p.Arg139His
XM_006721073.2:c.416G>A	XP_006721136.2:p.Arg139His
XM_006721072.4:c.416G>A	XP_006721135.2:p.Arg139His
XM_024450402.1:c.416G>A	XP_024306170.1:p.Arg139His
NM_003041.4:c.395G>A MANE Select	NP_003032.1:p.Arg132His
NR_130783.2:n.409G>A