Canonical Allele Identifier: CA395755458

Gene: SLC5A2

Linked Data

• ClinVar Variation Id: 438656
• ClinVar RCV Id: RCV000505656
• dbSNP Id: rs1309307492
• gnomAD v2: 16-31500445-G-A
• gnomAD v4: 16-31489124-G-A
• MyVariant Identifiers: chr16:g.31500445G>A (hg19) ; chr16:g.31489124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489124G>A , CM000678.2:g.31489124G>A	GRCh38
NC_000016.9:g.31500445G>A , CM000678.1:g.31500445G>A	GRCh37
NC_000016.8:g.31407946G>A	NCBI36
NG_012892.1:g.11007G>A
NG_033149.1:g.24296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1451G>A MANE Select	ENSP00000327943.3:p.Gly484Asp
ENST00000330498.3:c.1451G>A	ENSP00000327943.3:p.Gly484Asp
ENST00000419665.6:c.1131G>A	ENSP00000410601.2:p.Gly377=
ENST00000568188.1:n.822G>A
ENST00000568891.1:n.283G>A
NM_003041.3:c.1451G>A	NP_003032.1:p.Gly484Asp
NR_130783.1:n.1150G>A
XM_006721072.2:c.1472G>A	XP_006721135.2:p.Gly491Asp
XM_006721073.2:c.1303G>A	XP_006721136.2:p.Ala435Thr
XM_006721072.4:c.1472G>A	XP_006721135.2:p.Gly491Asp
XM_024450402.1:c.1152G>A	XP_024306170.1:p.Gly384=
NM_003041.4:c.1451G>A MANE Select	NP_003032.1:p.Gly484Asp
NR_130783.2:n.1145G>A